A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007323



Internal ID19096542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17262498..17290602hg38UCSC Ensembl
Innerchr1:17588993..17617097hg19UCSC Ensembl
Innerchr1:17461580..17489684hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3828105
hg1928105
hg1828105
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv129n100
Supporting Variantsnssv3475227
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)nsv1007323
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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