A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276352



Internal ID22198637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:160224165..160233654hg38UCSC Ensembl
Outerchr5:159651172..159660661hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3214459
Supporting Variants
SamplesHG00732
Known GenesFABP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276352
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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