A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545399



Internal ID15986122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10613137..10717203hg38UCSC Ensembl
Innerchr1:10673194..10777260hg19UCSC Ensembl
Innerchr1:10595781..10699847hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38104067
hg19104067
hg18104067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105n54
Supporting Variantsnssv709924
Samples
Known GenesCASZ1, PEX14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545399
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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