A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14279097



Internal ID22225241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70669899..70688649hg38UCSC Ensembl
Outerchr8:71582134..71600884hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3818751
hg1918751
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212988
Supporting Variants
SamplesHG00733
Known GenesXKR9
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14279097
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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