A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591150



Internal ID16031873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100591968..100714748hg38UCSC Ensembl
Innerchr3:100310812..100433592hg19UCSC Ensembl
Innerchr3:101793502..101916282hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38122781
hg19122781
hg18122781
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8476n54
Supporting Variantsnssv1152003
Samples1780854325_A
Known GenesGPR128, TFG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591150
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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