A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14263965



Internal ID22276170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:296114..483532hg38UCSC Ensembl
Outerchr19:296114..483532hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3810986
hg1910986
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3248638
Supporting Variants
SamplesNA19239
Known GenesC2CD4C, MIER2, ODF3L2, SHC2, THEG
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14263965
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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