A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516116



Internal ID15443409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:17265829..17287314hg38UCSC Ensembl
Innerchr1:17592324..17613809hg19UCSC Ensembl
Innerchr1:17464911..17486396hg18UCSC Ensembl
Innerchr1:17337630..17359115hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3821486
hg1921486
hg1821486
hg1721486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691565, nssv654821, nssv669330, nssv668375, nssv666311
Samples
Known GenesPADI3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516116
Frequency
Sample Size2026
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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