A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3202893



Internal ID22351992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:29202837..29242905hg38UCSC Ensembl
Outerchr4:29204459..29244527hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3840069
hg1940069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14272349, nssv14272351, nssv14272350
SamplesNA19238, NA19239, NA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3202893
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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