A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14271254



Internal ID22290219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:179524157..179552723hg38UCSC Ensembl
Outerchr3:179241945..179270511hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3828567
hg1928567
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194717
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14271254
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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