A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265411



Internal ID22134862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126912225..126921956hg38UCSC Ensembl
Outerchr2:127669801..127679532hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg389732
hg199732
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3209992
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265411
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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