A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523032



Internal ID15103639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:56651236..56783885hg38UCSC Ensembl
Innerchr1:57116909..57249558hg19UCSC Ensembl
Innerchr1:56889497..57022146hg18UCSC Ensembl
Innerchr1:56828930..56961579hg17UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38132650
hg19132650
hg18132650
hg17132650
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698715
Samples
Known GenesC1orf168, PRKAA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523032
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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