A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545483



Internal ID16332892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12806454..12854043hg38UCSC Ensembl
Innerchr1:12866590..12913896hg19UCSC Ensembl
Innerchr1:12789177..12836483hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3847590
hg1947307
hg1847307
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv124n54
Supporting Variantsnssv1173738, nssv1173740, nssv1173737, nssv1173741, nssv1173739
SamplesHGDP01010, HGDP00423, HGDP01016, HGDP01003, HGDP00732
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545483
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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