A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583596



Internal ID16024319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:167764495..167960492hg38UCSC Ensembl
Innerchr2:168621005..168817002hg19UCSC Ensembl
Innerchr2:168329251..168525248hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38195998
hg19195998
hg18195998
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv925274
Samples
Known GenesB3GALT1, STK39
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583596
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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