A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009828



Internal ID19099047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:54165985..54261584hg38UCSC Ensembl
Innerchr2:54393122..54488721hg19UCSC Ensembl
Innerchr2:54246626..54342225hg18UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg3895600
hg1995600
hg1895600
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576638
Samples
Known GenesACYP2, TSPYL6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009828
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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