A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276252



Internal ID22214990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:82135936..82142421hg38UCSC Ensembl
Outerchr5:81431755..81438240hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg381155
hg191155
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211222
Supporting Variants
SamplesHG00733
Known GenesATG10
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276252
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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