A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064945



Internal ID19154164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13221902..13818367hg38UCSC Ensembl
Innerchr21:14594223..15190688hg19UCSC Ensembl
Innerchr21:13516094..14112559hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38596466
hg19596466
hg18596466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4382n100
Supporting Variantsnssv3732587
Samples
Known GenesLOC100288966, MIR3156-3, MIR8069, POTED
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064945
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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