A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274848



Internal ID22198375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:24347965..24382202hg38UCSC Ensembl
Outerchr5:24348074..24382311hg19UCSC Ensembl
Cytoband5p14.2
Allele length
AssemblyAllele length
hg3834238
hg1934238
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195277
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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