A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv709139



Internal ID15656409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6006294..6020318hg38UCSC Ensembl
Innerchr1:6066354..6080378hg19UCSC Ensembl
Innerchr1:5988941..6002965hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3814025
hg1914025
hg1814025
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545227
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)nssv709139
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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