A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467050



Internal ID244872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:30477790..30563757hg38UCSC Ensembl
chr5:30477897..30563864hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3885968
hg1985968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16964010
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467050
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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