A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264357



Internal ID22145945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:172299570..172329293hg38UCSC Ensembl
Outerchr2:173164298..173194021hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3829724
hg1929724
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194595
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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