A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545462



Internal ID15986185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12794693..12852235hg38UCSC Ensembl
Innerchr1:12854842..12912088hg19UCSC Ensembl
Innerchr1:12777429..12834675hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3857543
hg1957247
hg1857247
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv710040
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545462
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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