A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278833



Internal ID22215559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154645855..154668453hg38UCSC Ensembl
Outerchr7:154437565..154460163hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3822599
hg1922599
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217521
Supporting Variants
SamplesHG00733
Known GenesDPP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278833
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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