A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546103



Internal ID15986826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:41011772..41076832hg38UCSC Ensembl
Innerchr1:41477444..41542504hg19UCSC Ensembl
Innerchr1:41250031..41315091hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3865061
hg1965061
hg1865061
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv712651
Samples
Known GenesCTPS1, MIR5095, SCMH1, SLFNL1, SLFNL1-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546103
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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