A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3208771



Internal ID22356962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:64559551..64654104hg38UCSC Ensembl
Outerchr4:65425269..65519822hg19UCSC Ensembl
Cytoband4q13.1
Allele length
AssemblyAllele length
hg3894554
hg1994554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14275090
SamplesHG00513
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3208771
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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