A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224525



Internal ID22367932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:81335055..81359718hg38UCSC Ensembl
Outerchr9:83949970..83974633hg19UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg3824664
hg1924664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14281201, nssv14281198, nssv14281199, nssv14281202, nssv14281200, nssv14281203, nssv14281204
SamplesNA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224525
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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