A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274843



Internal ID22198370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:110190769..110192460hg38UCSC Ensembl
Outerchr6:110511972..110513663hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg381692
hg191692
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195063
Supporting Variants
SamplesHG00732
Known GenesCDC40
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274843
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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