A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3225363



Internal ID22368514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1531133..1604029hg38UCSC Ensembl
Outerchr5:1531248..1604144hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg382656
hg192656
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275189, nssv14275190, nssv14275187, nssv14275186, nssv14275188
SamplesHG00512, NA19239, HG00731, HG00732, HG00733
Known GenesLOC728613, SDHAP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3225363
Frequency
Sample Size9
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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