A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274790



Internal ID22188340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:102083401..102137832hg38UCSC Ensembl
Outerchr6:102531276..102585707hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3854432
hg1954432
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202197
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274790
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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