A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545491



Internal ID15986214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12811189..12852235hg38UCSC Ensembl
Innerchr1:12871327..12912088hg19UCSC Ensembl
Innerchr1:12793914..12834675hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3841047
hg1940762
hg1840762
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124n54
Supporting Variantsnssv1173746, nssv710123
Samples1787431167_A
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545491
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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