A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219459



Internal ID22364477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:154590481..154672108hg38UCSC Ensembl
Outerchr7:154382191..154463818hg19UCSC Ensembl
Cytoband7q36.2
Allele length
AssemblyAllele length
hg3881628
hg1981628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14278191, nssv14278198, nssv14278195, nssv14278192, nssv14278196, nssv14278197, nssv14278194, nssv14278193
SamplesHG00512, NA19238, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesDPP6
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219459
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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