A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464931



Internal ID242802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127053532..127057246hg38UCSC Ensembl
chr5:126389224..126392938hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383715
hg193715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16974911
Samples
Known GenesC5orf63
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464931
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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