A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545065



Internal ID15985788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:2151127..2244722hg38UCSC Ensembl
Innerchr1:2082566..2176161hg19UCSC Ensembl
Innerchr1:2072426..2166021hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3893596
hg1993596
hg1893596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv48n54
Supporting Variantsnssv708739
Samples
Known GenesC1orf86, PRKCZ, SKI
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545065
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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