Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV164648 (GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3) Homo sapiens

Symbol: CV164648
Name: GRCh38/hg38 8p23.1(chr8:6786638-8364508)x3
Condition: See cases [RCV000142961]
Clinical Significance: benign
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AF233439.1   DEFA1   DEFA1B   DEFA3   DEFA4   DEFA5   DEFA6   DEFB1   DEFB103A   DEFB103B   DEFB104A   DEFB104B   DEFB105A   DEFB105B   DEFB106A   DEFB106B   DEFB107A   DEFB107B   DEFB109B   DEFB4A   DEFB4B   FAM66B   FAM66E   FAM85B   LINC00965   MIR548I3   PRAG1   PRR23D1   PRR23D2   SPAG11A   SPAG11B   USP17L1   USP17L3   USP17L4   USP17L8   XKR5   ZNF705B   ZNF705G  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_6786638)_(8364508_?)dup
NC_000008.10:g.(?_6644159)_(8222024_?)dup
NC_000008.9:g.(?_6631569)_(8259434_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3886,786,638 - 8,364,508CLINVAR
GRCh3786,644,159 - 8,222,024CLINVAR
Build 3686,631,569 - 8,259,434CLINVAR
Cytogenetic Map88p23.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490559
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.