A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275122



Internal ID22262626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:2125402..2148895hg38UCSC Ensembl
Outerchr5:2125516..2149009hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384610
hg194610
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229032
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275122
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