A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531366



Internal ID307326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40223783..40228229hg38UCSC Ensembl
chr17:38380035..38384481hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg384447
hg194447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713090
Samples
Known GenesWIPF2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531366
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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