A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263833



Internal ID22257470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:194369903..194499592hg38UCSC Ensembl
Outerchr2:195234627..195364316hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38129690
hg19129690
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3199771
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263833
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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