A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278807



Internal ID22274202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155402944..155412507hg38UCSC Ensembl
Outerchr7:155195639..155205202hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg389564
hg199564
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210364
Supporting Variants
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278807
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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