A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3229709



Internal ID22371470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:30533029..30546566hg38UCSC Ensembl
Outerchr4:30534651..30548188hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg381184
hg191184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14273230
SamplesNA19239
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3229709
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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