A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545448



Internal ID15986171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12774110..12852235hg38UCSC Ensembl
Innerchr1:12834253..12912088hg19UCSC Ensembl
Innerchr1:12756840..12834675hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3878126
hg1977836
hg1877836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv114n54
Supporting Variantsnssv1173678
Samples1798860570_A
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545448
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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