A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14275015



Internal ID22120409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:23608181..23623974hg38UCSC Ensembl
Outerchr4:23609804..23625597hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3815794
hg1915794
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207580
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14275015
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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