A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040348



Internal ID19129567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:95287620..95380575hg38UCSC Ensembl
Innerchr13:95939874..96032829hg19UCSC Ensembl
Innerchr13:94737875..94830830hg18UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3892956
hg1992956
hg1892956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1731n100
Supporting Variantsnssv3713281, nssv3525502, nssv3525500, nssv3713280, nssv3525501
Samples
Known GenesABCC4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040348
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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