A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3197998



Internal ID22347793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:105189434..105212443hg38UCSC Ensembl
Outerchr2:105805891..105828900hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3823010
hg1923010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14264649, nssv14264647, nssv14264648
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3197998
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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