A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601943



Internal ID16042666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31765767..31796085hg38UCSC Ensembl
Innerchr6:31733544..31763862hg19UCSC Ensembl
Innerchr6:31841523..31871841hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3830319
hg1930319
hg1830319
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1053523
Samples
Known GenesVARS, VWA7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601943
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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