A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14283679



Internal ID22221988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:130496953..130514128hg38UCSC Ensembl
Outerchr9:133372340..133389515hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg3817176
hg1917176
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3226430
Supporting Variants
SamplesHG00733
Known GenesASS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14283679
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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