A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277777



Internal ID22207246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:20663558..20742499hg38UCSC Ensembl
Outerchr7:20703181..20782122hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3878942
hg1978942
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211784
Supporting Variants
SamplesHG00732
Known GenesABCB5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277777
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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