A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277314



Internal ID22198814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:22361165..22396852hg38UCSC Ensembl
Outerchr7:22400784..22436471hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3835688
hg1935688
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228606
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277314
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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