A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263899



Internal ID22134352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234638160..234653355hg38UCSC Ensembl
Outerchr2:235546804..235561999hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3815196
hg1915196
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194941
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263899
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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