A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219757



Internal ID22364679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35688202..35723289hg38UCSC Ensembl
Outerchr5:35688304..35723391hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275806, nssv14275805, nssv14275801, nssv14275802, nssv14275798, nssv14275803, nssv14275799, nssv14275804, nssv14275800
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesSPEF2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219757
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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