A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545222



Internal ID15985945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6005987..6007580hg38UCSC Ensembl
Innerchr1:6066047..6067640hg19UCSC Ensembl
Innerchr1:5988634..5990227hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381594
hg191594
hg181594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv709127
Samples
Known GenesKCNAB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545222
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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