A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545290



Internal ID16332699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6962714..6963378hg38UCSC Ensembl
Innerchr1:7022774..7023438hg19UCSC Ensembl
Innerchr1:6945361..6946025hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38665
hg19665
hg18665
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv85n54
Supporting Variantsnssv709446, nssv709447, nssv709445, nssv709448
Samples
Known GenesCAMTA1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545290
Frequency
Sample Size17421
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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