A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv550708



Internal ID16338117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:44715242..44873696hg38UCSC Ensembl
Innerchr10:45210690..45369144hg19UCSC Ensembl
Innerchr10:44530696..44689150hg18UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg38158455
hg19158455
hg18158455
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1104n54
Supporting Variantsnssv747341, nssv1173569
Samples1780862090_A
Known GenesTMEM72-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv550708
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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