A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058612



Internal ID19147831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:40498153..40535974hg38UCSC Ensembl
Innerchr21:41870080..41907901hg19UCSC Ensembl
Innerchr21:40791950..40829771hg18UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3837822
hg1937822
hg1837822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4434n100
Supporting Variantsnssv3600209
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)nsv1058612
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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