A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv713209



Internal ID15660479
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 StatusS
Merged Variantsnsv546261
Supporting Variants
Samples
Known GenesLRRC42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv713209
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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