A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275108



Internal ID22300525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1531133..1578798hg38UCSC Ensembl
Outerchr5:1531248..1578913hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg381313
hg191313
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3229834
Supporting Variants
SamplesNA19240
Known GenesSDHAP3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275108
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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