A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712142



Internal ID15659412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30935209..31062316hg38UCSC Ensembl
Innerchr1:31408056..31535163hg19UCSC Ensembl
Innerchr1:31180643..31307750hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38127108
hg19127108
hg18127108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545950
Supporting Variants
Samples
Known GenesPUM1, SNORD103A, SNORD103B, SNORD85
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712142
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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