A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190701



Internal ID22341528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128068847..128075941hg38UCSC Ensembl
Outerchr5:127404539..127411633hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg387095
hg197095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272671, nssv14272670, nssv14272669
SamplesNA19238, NA19239, NA19240
Known GenesFLJ33630
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190701
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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