A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3532775



Internal ID22402097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:149111961..149111961hg38UCSC Ensembl
chr5:148491524..148491524hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14399918, nssv14424735
SamplesNA19240, HG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3532775
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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