A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3200008



Internal ID22349518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:33278898..33388977hg38UCSC Ensembl
Outerchr4:33280520..33390599hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38110080
hg19110080
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272370, nssv14272371
SamplesNA19238, HG00732
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3200008
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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