A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17724134



Internal ID147800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51768552..52114487hg38UCSC Ensembl
chr19:52271805..52617740hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38345936
hg19345936
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5515557
Supporting Variants
Samples
Known GenesFPR2, FPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF841
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17724134
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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