A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267615



Internal ID22280588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24209347..24255532hg38UCSC Ensembl
Outerchr1:24535837..24582022hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg384137
hg194137
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230018
Supporting Variants
SamplesNA19239
Known GenesLOC284632
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267615
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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