A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191779



Internal ID22342440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:62273584..62287832hg38UCSC Ensembl
Outerchr5:61569411..61583659hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3814249
hg1914249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14274918, nssv14274920, nssv14274919, nssv14274917, nssv14274921
SamplesNA19238, HG00731, HG00733, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191779
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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