A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272855



Internal ID22198023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:117365228..117405427hg38UCSC Ensembl
Outerchr4:118286384..118326583hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3840200
hg1940200
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197724
Supporting Variants
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272855
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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