A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272700



Internal ID22262463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:145322424..145384485hg38UCSC Ensembl
Outerchr5:144701987..144764048hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3862062
hg1962062
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206875
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272700
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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