A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600208



Internal ID18898489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:40495269..40537334hg38UCSC Ensembl
Innerchr21:41867196..41909261hg19UCSC Ensembl
Innerchr21:40789066..40831131hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3842066
hg1942066
hg1842066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056110
Supporting Variants
Samples
Known GenesDSCAM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600208
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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