A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5521424



Internal ID297719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48787813..48788031hg38UCSC Ensembl
chr17:46865175..46865393hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38219
hg19219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17724599
Samples
Known GenesTTLL6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5521424
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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