A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv708992



Internal ID16002948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6005366..6005926hg38UCSC Ensembl
Innerchr1:6065426..6065986hg19UCSC Ensembl
Innerchr1:5988013..5988573hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg38561
hg19561
hg18561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545198
Supporting Variants
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv708992
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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