A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3192716



Internal ID22343262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:214825493..214869252hg38UCSC Ensembl
Outerchr2:215690217..215733976hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3843760
hg1943760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263857
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3192716
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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