A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571424



Internal ID16012147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8698055..8916356hg38UCSC Ensembl
Innerchr16:8791912..9010213hg19UCSC Ensembl
Innerchr16:8699413..8917714hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38218302
hg19218302
hg18218302
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150519
Samples1782681277_A
Known GenesABAT, CARHSP1, PMM2, TMEM186, USP7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571424
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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