A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546261



Internal ID15986984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53946642..53947262hg38UCSC Ensembl
Innerchr1:54412315..54412935hg19UCSC Ensembl
Innerchr1:54184903..54185523hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38621
hg19621
hg18621
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713209, nssv713208, nssv713210
Samples
Known GenesLRRC42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546261
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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