A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3542368



Internal ID22411445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:33325241..33325241hg38UCSC Ensembl
chr4:33326863..33326863hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424271, nssv14452252
SamplesHG00733, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3542368
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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