A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274673



Internal ID22121335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181317467..181326542hg38UCSC Ensembl
Outerchr5:180744468..180753543hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg387030
hg197030
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212087
Supporting Variants
SamplesHG00512
Known GenesLOC100132062, LOC100132287, LOC100133331
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274673
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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