A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204204



Internal ID22353092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46471423..46508823hg38UCSC Ensembl
Outerchr4:46473440..46510840hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3837401
hg1937401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272833
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204204
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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