A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3600190



Internal ID18898471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36409916..36447522hg38UCSC Ensembl
Innerchr21:37782214..37819820hg19UCSC Ensembl
Innerchr21:36704084..36741690hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3837607
hg1937607
hg1837607
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064194
Supporting Variants
Samples
Known GenesCHAF1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3600190
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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