A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581500



Internal ID16368909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39931223..39981525hg38UCSC Ensembl
Innerchr2:40158363..40208665hg19UCSC Ensembl
Innerchr2:40011867..40062169hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3850303
hg1950303
hg1850303
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6793n54
Supporting Variantsnssv1151044
SamplesHGDP00146
Known GenesSLC8A1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581500
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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