A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275196



Internal ID22277154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:17158188..17189930hg38UCSC Ensembl
Outerchr5:17158297..17190039hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381281
hg191281
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221625
Supporting Variants
SamplesNA19239
Known GenesLOC285696
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275196
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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