A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3536468



Internal ID22405697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55433460..55433460hg38UCSC Ensembl
chr5:54729288..54729288hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14425675
SamplesHG00514
Known GenesPPAP2A
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)nsv3536468
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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