A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219853



Internal ID22364736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:125071929..125100687hg38UCSC Ensembl
Outerchr3:124790773..124819531hg19UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg382614
hg192614
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272262, nssv14272259, nssv14272258, nssv14272264, nssv14272263, nssv14272266, nssv14272261, nssv14272265, nssv14272260
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSLC12A8
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219853
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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