A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272851



Internal ID22198020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:104214855..104350172hg38UCSC Ensembl
Outerchr4:105136012..105271329hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38135318
hg19135318
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3200428
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272851
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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