A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467579



Internal ID245389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:101082288..101084079hg38UCSC Ensembl
chr5:100417992..100419783hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg381792
hg191792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16971485
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467579
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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