A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14282856



Internal ID22130789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:81993924..82036082hg38UCSC Ensembl
Outerchr9:84608839..84650997hg19UCSC Ensembl
Cytoband9q21.32
Allele length
AssemblyAllele length
hg3842159
hg1942159
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3221357
Supporting Variants
SamplesHG00513
Known GenesSPATA31D1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14282856
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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