A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200112



Internal ID22349609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:101614789..101621164hg38UCSC Ensembl
Outerchr2:102231251..102237626hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg386376
hg196376
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264639, nssv14264638, nssv14264640
SamplesNA19238, NA19240, HG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200112
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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