A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587803



Internal ID16028526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44514317..44569605hg38UCSC Ensembl
Innerchr21:45934200..45989488hg19UCSC Ensembl
Innerchr21:44758628..44813916hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3855289
hg1955289
hg1855289
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv948399
Samples
Known GenesC21orf90, KRTAP10-1, KRTAP10-2, KRTAP10-3, MIR7975, TSPEAR, TSPEAR-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587803
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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