A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056848



Internal ID19146067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:28135977..28376349hg38UCSC Ensembl
Innerchr21:29508296..29748670hg19UCSC Ensembl
Innerchr21:28430167..28670541hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38240373
hg19240375
hg18240375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600105
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056848
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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