A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586984



Internal ID16374393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:12965965..13060535hg38UCSC Ensembl
Innerchr21:14338286..14432856hg19UCSC Ensembl
Innerchr21:13260157..13354727hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3894571
hg1994571
hg1894571
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv944879, nssv944878
Samples
Known GenesANKRD30BP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586984
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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