A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724047



Internal ID147713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:49863321..50035426hg38UCSC Ensembl
chr19:50366578..50538683hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38172106
hg19172106
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516385
Supporting Variants
Samples
Known GenesAKT1S1, ATF5, IL4I1, MIR4750, MIR4751, NUP62, PNKP, SIGLEC11, SIGLEC16, TBC1D17, VRK3, ZNF473
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724047
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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