A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265755



Internal ID22224007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160576633..160598825hg38UCSC Ensembl
Outerchr2:161433144..161455336hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg381182
hg191182
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223627
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265755
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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