A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278231



Internal ID22277917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:25298044..25308332hg38UCSC Ensembl
Outerchr7:25337663..25347951hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg3810289
hg1910289
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213235
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278231
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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