A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3531667



Internal ID22401017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93074992..93074992hg38UCSC Ensembl
chr5:92410698..92410698hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14398677
SamplesNA19240
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)nsv3531667
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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