A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17711009



Internal ID134675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4820876..4821201hg38UCSC Ensembl
chr17:4724171..4724496hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5526090
Supporting Variants
Samples
Known GenesPLD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17711009
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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