A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276101



Internal ID22270134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:17347200..17411776hg38UCSC Ensembl
Outerchr6:17347431..17412007hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3864577
hg1964577
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208169
Supporting Variants
SamplesNA19239
Known GenesCAP2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276101
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