A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224791



Internal ID22368116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:51925192..51934515hg38UCSC Ensembl
Outerchr5:51221026..51230349hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382410
hg192410
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275867, nssv14275864, nssv14275868, nssv14275865, nssv14275866
SamplesHG00512, HG00731, HG00732, HG00733, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224791
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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