A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946780



Internal ID15894050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:39611206..39614193hg38UCSC Ensembl
Innerchr21:40983133..40986120hg19UCSC Ensembl
Innerchr21:39905003..39907990hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg382988
hg192988
hg182988
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587484
Supporting Variants
Samples
Known GenesB3GALT5, C21orf88
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946780
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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