A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527237



Internal ID303340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28844562..28871621hg38UCSC Ensembl
chr17:27171580..27198639hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3827060
hg1927060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712386
Samples
Known GenesERAL1, MIR144, MIR451A, MIR451B, MIR4732
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527237
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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