A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545218



Internal ID15985941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6005926..6020318hg38UCSC Ensembl
Innerchr1:6065986..6080378hg19UCSC Ensembl
Innerchr1:5988573..6002965hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3814393
hg1914393
hg1814393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv74n54
Supporting Variantsnssv709091
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545218
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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