A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272672



Internal ID22265625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:128071641..128082140hg38UCSC Ensembl
Outerchr5:127407333..127417832hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3810500
hg1910500
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194263
Supporting Variants
SamplesNA19238
Known GenesFLJ33630
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272672
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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