A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3199626



Internal ID22349186
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272604, nssv14272600, nssv14272602, nssv14272598, nssv14272605, nssv14272599, nssv14272603, nssv14272601
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3199626
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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