A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276136



Internal ID22227487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:36552311..36569613hg38UCSC Ensembl
Outerchr5:36552413..36569715hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227312
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276136
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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