A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545280



Internal ID16332689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6962639..6963271hg38UCSC Ensembl
Innerchr1:7022699..7023331hg19UCSC Ensembl
Innerchr1:6945286..6945918hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38633
hg19633
hg18633
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85n54
Supporting Variantsnssv709258, nssv709244, nssv709246, nssv709251, nssv709250, nssv709249, nssv709255, nssv709252, nssv709253, nssv709248, nssv709243, nssv709257, nssv709256, nssv709247, nssv709242, nssv709259, nssv709245, nssv709254
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545280
Frequency
Sample Size17421
Observed Gain16
Observed Loss2
Observed Complex0
Frequencyn/a


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