A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545279



Internal ID16332688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6962639..6963232hg38UCSC Ensembl
Innerchr1:7022699..7023292hg19UCSC Ensembl
Innerchr1:6945286..6945879hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv83n54
Supporting Variantsnssv709233, nssv709231, nssv709234, nssv709236, nssv709237, nssv709241, nssv709235, nssv709239, nssv709232, nssv709240, nssv709238
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545279
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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