A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043630



Internal ID18786161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:31162792..31311663hg38UCSC Ensembl
Innerchr13:31736929..31885800hg19UCSC Ensembl
Innerchr13:30634929..30783800hg18UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38148872
hg19148872
hg18148872
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523228
Samples
Known GenesB3GALTL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1043630
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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