A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14272848



Internal ID22198018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:99516522..99536246hg38UCSC Ensembl
Outerchr4:100437679..100457403hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg3819725
hg1919725
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198573
Supporting Variants
SamplesHG00732
Known GenesC4orf17
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14272848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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