A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14273602



Internal ID22136445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:59181044..59244082hg38UCSC Ensembl
Outerchr5:58476870..58539908hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3863039
hg1963039
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3208764
Supporting Variants
SamplesHG00513
Known GenesPDE4D
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14273602
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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