A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276647



Internal ID22277813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:147595416..147640107hg38UCSC Ensembl
Outerchr6:147916552..147961243hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg3844692
hg1944692
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207167
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276647
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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