A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545469



Internal ID15986192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12852235hg38UCSC Ensembl
Innerchr1:12860749..12912088hg19UCSC Ensembl
Innerchr1:12783336..12834675hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3851635
hg1951340
hg1851340
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv123n54
Supporting Variantsnssv710052, nssv710055, nssv710053, nssv1173691, nssv710054, nssv710051, nssv1173690, nssv710050
SamplesHGDP00262, 1780862294_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)nsv545469
Frequency
Sample Size17421
Observed Gain7
Observed Loss1
Observed Complex0
Frequencyn/a


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