A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272738



Internal ID22262464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:161129268..161175188hg38UCSC Ensembl
Outerchr5:160556275..160602195hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3845921
hg1945921
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3202911
Supporting Variants
SamplesNA19238
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272738
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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