A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468290



Internal ID246091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:51935951..51948500hg38UCSC Ensembl
chr4:52802117..52814666hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3812550
hg1912550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16950030
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468290
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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