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

Variant : CV164107 (GRCh38/hg38 1q44(chr1:248804574-248895548)x3) Homo sapiens

Symbol: CV164107
Name: GRCh38/hg38 1q44(chr1:248804574-248895548)x3
Condition: See cases [RCV000142420]
Clinical Significance: benign
Last Evaluated: 06/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: LOC115804255   LOC115804256   MIR3124   PGBD2   SH3BP5L   TRE-CTC2-1   TRL-CAA4-1   ZNF672   ZNF692  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_248804574)_(248895548_?)dup
NC_000001.10:g.(?_249098884)_(249189747_?)dup
NC_000001.9:g.(?_247065396)_(247156370_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381248,804,574 - 248,895,548CLINVAR
GRCh371249,098,884 - 249,189,747 (+)CLINVAR
Build 361247,065,396 - 247,156,370CLINVAR
Cytogenetic Map11q44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9490018
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE



NHLBI Logo

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