A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5517484



Internal ID293903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:63672117..63674376hg38UCSC Ensembl
chr17:61749477..61751736hg19UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg382260
hg192260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17714015
Samples
Known GenesMAP3K3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5517484
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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