A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271710



Internal ID22277457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:140188487..140204352hg38UCSC Ensembl
Outerchr3:139907329..139923194hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3815866
hg1915866
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191630
Supporting Variants
SamplesNA19239
Known GenesCLSTN2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271710
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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