A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279415



Internal ID22118959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:155117722..155123324hg38UCSC Ensembl
Outerchr6:155438856..155444458hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38720
hg19720
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3219492
Supporting Variants
SamplesHG00512
Known GenesTIAM2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279415
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