A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546260



Internal ID15986983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53946642..53947108hg38UCSC Ensembl
Innerchr1:54412315..54412781hg19UCSC Ensembl
Innerchr1:54184903..54185369hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38467
hg19467
hg18467
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713207, nssv713206
Samples
Known GenesLRRC42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546260
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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