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Variant : CV162414 (GRCh38/hg38 1p34.1(chr1:45611232-45961272)x3) Homo sapiens

Symbol: CV162414
Name: GRCh38/hg38 1p34.1(chr1:45611232-45961272)x3
Condition: See cases [RCV000141196]
Clinical Significance: uncertain significance
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CCDC17   GPBP1L1   IPP   MAST2   NASP   TMEM69  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_45611232)_(45961272_?)dup
NC_000001.10:g.(?_46076904)_(46426944_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38145,611,232 - 45,961,272CLINVAR
GRCh37146,076,904 - 46,426,944CLINVAR
Build 36145,849,491 - 46,199,531CLINVAR
Cytogenetic Map11p34.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488723
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE



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