A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714620



Internal ID138286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75263398..75265697hg38UCSC Ensembl
chr17:73259479..73261778hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5519847
Supporting Variants
Samples
Known GenesMRPS7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714620
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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