A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14274493



Internal ID22310399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:33834824..33861325hg38UCSC Ensembl
Outerchr4:33836446..33862947hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3826502
hg1926502
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206789
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14274493
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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