A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514322



Internal ID290820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38304796..38305866hg38UCSC Ensembl
chr17:36460762..36461832hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381071
hg191071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17712959
Samples
Known GenesMRPL45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514322
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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