A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580915



Internal ID16021638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9168019..9704049hg38UCSC Ensembl
Innerchr2:9308148..9844178hg19UCSC Ensembl
Innerchr2:9225599..9761629hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38536031
hg19536031
hg18536031
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv903579
Samples
Known GenesADAM17, ASAP2, CPSF3, IAH1, ITGB1BP1, YWHAQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580915
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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