A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14262396



Internal ID22279383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:58960175..58964300hg38UCSC Ensembl
Outerchr1:59425847..59429972hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg383131
hg193131
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230081
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14262396
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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