A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542346



Internal ID22411422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:182827329..182827329hg38UCSC Ensembl
chr4:183748482..183748482hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382319
hg192319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451950, nssv14397349, nssv14424513
SamplesNA19240, HG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542346
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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