A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3541774



Internal ID22410864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128465728..128465728hg38UCSC Ensembl
chr3:128184571..128184571hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424000
SamplesHG00514
Known GenesDNAJB8, DNAJB8-AS1
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences detected as low complexity by RepeatMasker/3.3.0
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3541774
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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