A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212202



Internal ID22359526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:76291428..76318108hg38UCSC Ensembl
Outerchr9:78906344..78933024hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3826681
hg1926681
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281187, nssv14281192, nssv14281191, nssv14281194, nssv14281188, nssv14281190, nssv14281195, nssv14281193, nssv14281189
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPCSK5
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212202
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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