A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275631



Internal ID22253732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:126628275..126712386hg38UCSC Ensembl
Outerchr6:126949421..127033531hg19UCSC Ensembl
Cytoband6q22.32
Allele length
AssemblyAllele length
hg3884112
hg1984111
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200837
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275631
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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