A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282793



Internal ID22118845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:40230043..40258908hg38UCSC Ensembl
Outerchr9:42375061..42403926hg19UCSC Ensembl
Cytoband9p12
Allele length
AssemblyAllele length
hg3828866
hg1928866
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3222983
Supporting Variants
SamplesHG00512
Known GenesANKRD20A2, ANKRD20A3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282793
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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