A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518922



Internal ID295285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40228226..40255837hg38UCSC Ensembl
chr17:38384478..38412089hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg3827612
hg1927612
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713092
Samples
Known GenesWIPF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518922
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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