A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508442



Internal ID285130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:99137578..99141149hg38UCSC Ensembl
chr11:99008308..99011879hg19UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg383572
hg193572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051226
Samples
Known GenesCNTN5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508442
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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