A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3539839



Internal ID22408345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184378697..184378697hg38UCSC Ensembl
chr4:185299851..185299851hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14451961
SamplesHG00733
Known Genes
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)nsv3539839
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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