A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468632



Internal ID246427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:6589687..6590213hg38UCSC Ensembl
chr5:6589800..6590326hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38527
hg19527
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16961930
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468632
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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