A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468007



Internal ID245813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1746881..1751591hg38UCSC Ensembl
chr5:1746996..1751706hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg384711
hg194711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16960831
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468007
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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