A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358042



Internal ID22583711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65778994..65779176hg38UCSC Ensembl
chr12:66172774..66172956hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5942261
Supporting Variants
Samples
Known GenesRPSAP52
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358042
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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