A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003069



Internal ID19092286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17262553..17293502hg38UCSC Ensembl
Innerchr1:17589048..17619997hg19UCSC Ensembl
Innerchr1:17461635..17492584hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3830950
hg1930950
hg1830950
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129n100
Supporting Variantsnssv3700285, nssv3700284
Samples
Known GenesPADI3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003069
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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