A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14277368



Internal ID22141949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:51382344..51389946hg38UCSC Ensembl
Outerchr7:51450041..51457643hg19UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg387603
hg197603
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220353
Supporting Variants
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14277368
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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