A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587044



Internal ID16027767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14254339..14326487hg38UCSC Ensembl
Innerchr21:15626660..15698808hg19UCSC Ensembl
Innerchr21:14548531..14620679hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3872149
hg1972149
hg1872149
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152400, nssv1152399
SamplesHGDP01084, HGDP01090
Known GenesABCC13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv587044
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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