A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276479



Internal ID22253846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:34043309..34099130hg38UCSC Ensembl
Outerchr6:34011086..34066907hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212476
Supporting Variants
SamplesNA19238
Known GenesGRM4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276479
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