A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263857



Internal ID22255274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:214825493..214869252hg38UCSC Ensembl
Outerchr2:215690217..215733976hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3843760
hg1943760
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3192716
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263857
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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