A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065332



Internal ID19154551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10558280..10753328hg38UCSC Ensembl
Innerchr21:10759129..10954177hg19UCSC Ensembl
Innerchr21:9781000..9976048hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38195049
hg19195049
hg18195049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4350n100
Supporting Variantsnssv3585006, nssv3585005
Samples
Known GenesTPTE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065332
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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