A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5511813



Internal ID288383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:34982000..35024000hg38UCSC Ensembl
chr11:35003547..35045547hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg3842001
hg1942001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17044183
Samples
Known GenesPDHX
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5511813
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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