A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191885



Internal ID22342535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:102937334..102970159hg38UCSC Ensembl
Outerchr4:103858491..103891316hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3832826
hg1932826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6777n152
Supporting Variantsnssv14272981, nssv14272983, nssv14272982, nssv14272980, nssv14272986, nssv14272984, nssv14272985, nssv14272987
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC9B1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191885
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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