A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545063



Internal ID15985786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2151050..2251031hg38UCSC Ensembl
Innerchr1:2082489..2182470hg19UCSC Ensembl
Innerchr1:2072349..2172330hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3899982
hg1999982
hg1899982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n54
Supporting Variantsnssv1172579
Samples1780862101_A
Known GenesC1orf86, PRKCZ, SKI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545063
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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