A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264712



Internal ID22134652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:221365496..221392546hg38UCSC Ensembl
Outerchr2:222230216..222257266hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3827051
hg1927051
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202588
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264712
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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