A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545397



Internal ID15986120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10613137..10707728hg38UCSC Ensembl
Innerchr1:10673194..10767785hg19UCSC Ensembl
Innerchr1:10595781..10690372hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3894592
hg1994592
hg1894592
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105n54
Supporting Variantsnssv1173666
Samples1780862573_A
Known GenesCASZ1, PEX14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545397
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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