A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550704



Internal ID15991427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44712577..44864035hg38UCSC Ensembl
Innerchr10:45208025..45359483hg19UCSC Ensembl
Innerchr10:44528031..44679489hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38151459
hg19151459
hg18151459
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1104n54
Supporting Variantsnssv1173559
Samples1780854592_A
Known GenesTMEM72-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550704
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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