A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14281978



Internal ID22324658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:129359944..129364674hg38UCSC Ensembl
Outerchr9:132122223..132126953hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg384731
hg194731
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210571
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14281978
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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