A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545226



Internal ID15985949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6006243..6006560hg38UCSC Ensembl
Innerchr1:6066303..6066620hg19UCSC Ensembl
Innerchr1:5988890..5989207hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38318
hg19318
hg18318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709135, nssv709136, nssv709138, nssv709137
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545226
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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