A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545456



Internal ID15986179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12786855..12858819hg38UCSC Ensembl
Innerchr1:12846998..12918674hg19UCSC Ensembl
Innerchr1:12769585..12841261hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3871965
hg1971677
hg1871677
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv117n54
Supporting Variantsnssv710034, nssv710033
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545456
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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