A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3272337



Internal ID22377594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75271031..75271347hg38UCSC Ensembl
chr5:74566856..74567172hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14436113
SamplesHG00514
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsAbsence of a SVA mobile element insertion that is present in the reference
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3272337
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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