A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274785



Internal ID22188385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:74287373..74359535hg38UCSC Ensembl
Outerchr6:74997089..75069251hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg3872163
hg1972163
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3191385
Supporting Variants
SamplesHG00731
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274785
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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