A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545398



Internal ID15986121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:10613137..10707845hg38UCSC Ensembl
Innerchr1:10673194..10767902hg19UCSC Ensembl
Innerchr1:10595781..10690489hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3894709
hg1994709
hg1894709
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv105n54
Supporting Variantsnssv709923
Samples
Known GenesCASZ1, PEX14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545398
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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