A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546262



Internal ID16333671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53946694..53947749hg38UCSC Ensembl
Innerchr1:54412367..54413422hg19UCSC Ensembl
Innerchr1:54184955..54186010hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381056
hg191056
hg181056
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713211
Samples
Known GenesLRRC42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546262
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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