A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545217



Internal ID15985940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6005926..6007580hg38UCSC Ensembl
Innerchr1:6065986..6067640hg19UCSC Ensembl
Innerchr1:5988573..5990227hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381655
hg191655
hg181655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709089, nssv709090
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545217
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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