A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279377



Internal ID22225049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34697264..34740626hg38UCSC Ensembl
Outerchr6:34665041..34708403hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381539
hg191539
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212416
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279377
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