A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266792



Internal ID22274718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:1572204..1616066hg38UCSC Ensembl
Outerchr2:1575976..1619838hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381437
hg191437
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227865
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266792
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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