A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204057



Internal ID22352970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:122680155..122753049hg38UCSC Ensembl
Outerchr2:123437731..123510625hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3872895
hg1972895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14263758, nssv14264390, nssv14263757, nssv14263759
SamplesNA19238, HG00732, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204057
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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