A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562694



Internal ID335639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63525502..63937515hg38UCSC Ensembl
chr20:62156855..62568868hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38412014
hg19412014
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17733672
Samples
Known GenesABHD16B, ARFRP1, C20orf195, DNAJC5, GMEB2, HELZ2, LIME1, MIR941-1, MIR941-2, MIR941-3, MIR941-4, PTK6, RTEL1, RTEL1-TNFRSF6B, SLC2A4RG, SRMS, STMN3, TNFRSF6B, TPD52L2, ZBTB46, ZGPAT
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562694
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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