A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3204558



Internal ID22353391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:134503953..134545810hg38UCSC Ensembl
Outerchr4:135425108..135466965hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3841858
hg1941858
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6853n152
Supporting Variantsnssv14272859
SamplesHG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3204558
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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