A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224606



Internal ID22367984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:127412138..127429465hg38UCSC Ensembl
Outerchr9:130174417..130191744hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3817328
hg1917328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282821, nssv14282822
SamplesHG00512, HG00514
Known GenesZNF79
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224606
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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