A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14264334



Internal ID22145940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:165142720..165186051hg38UCSC Ensembl
Outerchr2:165999230..166042561hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3843332
hg1943332
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3204596
Supporting Variants
SamplesHG00514
Known GenesSCN3A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14264334
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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