A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064512



Internal ID19153731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:10509823..10556325hg38UCSC Ensembl
Innerchr21:10956132..11002634hg19UCSC Ensembl
Innerchr21:9978003..10024505hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3846503
hg1946503
hg1846503
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4365n100
Supporting Variantsnssv3585085, nssv3585086, nssv3585084
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)nsv1064512
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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