A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14278206



Internal ID22154516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:155929372..155940614hg38UCSC Ensembl
Outerchr7:155722066..155733308hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg3811243
hg1911243
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3225631
Supporting Variants
SamplesHG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14278206
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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