A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065974



Internal ID19155193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:40711842..40816648hg38UCSC Ensembl
Innerchr21:42083768..42188574hg19UCSC Ensembl
Innerchr21:41005638..41110444hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38104807
hg19104807
hg18104807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3733454
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)nsv1065974
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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