A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv729692



Internal ID16023648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179991652..180102852hg38UCSC Ensembl
Innerchr1:179960787..180071987hg19UCSC Ensembl
Innerchr1:178227410..178338610hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38111201
hg19111201
hg18111201
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv548344
Supporting Variants
Samples
Known GenesCEP350
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv729692
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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