A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496047



Internal ID273136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128101530..128101743hg38UCSC Ensembl
chr11:127971425..127971638hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17051618
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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