A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265986



Internal ID22279712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:159382732..159393542hg38UCSC Ensembl
Outerchr2:160239243..160250053hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg386561
hg196561
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224173
Supporting Variants
SamplesNA19239
Known GenesBAZ2B
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265986
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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