A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264916



Internal ID22235137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:195158790..195196502hg38UCSC Ensembl
Outerchr2:196023514..196061226hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3837713
hg1937713
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197748
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264916
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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