A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278770



Internal ID22274228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102685963..102752503hg38UCSC Ensembl
Outerchr7:102326410..102392950hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3866541
hg1966541
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212282
Supporting Variants
SamplesNA19239
Known GenesFAM185A
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278770
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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