A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200205



Internal ID22349691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:62796024..62818193hg38UCSC Ensembl
Outerchr4:63661742..63683911hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3822170
hg1922170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275039, nssv14275037, nssv14275038
SamplesHG00512, HG00513, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200205
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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