A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282829



Internal ID22124193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:129289334..129319896hg38UCSC Ensembl
Outerchr9:132051613..132082175hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3830563
hg1930563
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212040
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282829
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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