A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587359



Internal ID16374768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:30714005..30852615hg38UCSC Ensembl
Innerchr21:32086323..32224934hg19UCSC Ensembl
Innerchr21:31008194..31146805hg18UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg38138611
hg19138612
hg18138612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151611
Samples1780854261_A
Known GenesKRTAP21-1, KRTAP21-2, KRTAP21-3, KRTAP7-1, KRTAP8-1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587359
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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