A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276720



Internal ID22121089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:104787302..104830184hg38UCSC Ensembl
Outerchr6:105235177..105278059hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3842883
hg1942883
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196099
Supporting Variants
SamplesHG00512
Known GenesHACE1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276720
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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