A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv712141



Internal ID15659411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:30881230..30935209hg38UCSC Ensembl
Innerchr1:31354077..31408056hg19UCSC Ensembl
Innerchr1:31126664..31180643hg18UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg3853980
hg1953980
hg1853980
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545949
Supporting Variants
Samples
Known GenesPUM1, SDC3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv712141
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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