A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545278



Internal ID16332687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6962639..6963181hg38UCSC Ensembl
Innerchr1:7022699..7023241hg19UCSC Ensembl
Innerchr1:6945286..6945828hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38543
hg19543
hg18543
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv83n54
Supporting Variantsnssv709227, nssv709230, nssv709228, nssv709226, nssv709223, nssv709225, nssv709229, nssv709224
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545278
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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