A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3537540



Internal ID22406743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:474657..474657hg38UCSC Ensembl
chr5:474772..474772hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14424406
SamplesHG00514
Known GenesSLC9A3
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)nsv3537540
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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