A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545223



Internal ID15985946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6005987..6019332hg38UCSC Ensembl
Innerchr1:6066047..6079392hg19UCSC Ensembl
Innerchr1:5988634..6001979hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3813346
hg1913346
hg1813346
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv74n54
Supporting Variantsnssv709128
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545223
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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