A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17019334



Internal ID80522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144464222..144516222hg38UCSC Ensembl
chr8:145689605..145741606hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3852001
hg1952002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142212
Supporting Variants
Samples
Known GenesCYHR1, FOXH1, GPT, KIFC2, MFSD3, PPP1R16A, RECQL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17019334
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.109677


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