A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274635



Internal ID22262946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178734127..178764664hg38UCSC Ensembl
Outerchr5:178161128..178191665hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381501
hg191501
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215226
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274635
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer