A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5519266



Internal ID295618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21203876..21208225hg38UCSC Ensembl
chr17:21107189..21111538hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg384350
hg194350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712151
Samples
Known GenesTMEM11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5519266
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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