A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272602



Internal ID22197968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:91175251..91216167hg38UCSC Ensembl
Outerchr5:90471068..90511984hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3840917
hg1940917
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199626
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272602
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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