A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3221357



Internal ID22365773
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14282856
SamplesHG00513
Known GenesSPATA31D1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3221357
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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