A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693533



Internal ID117199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31318680..31319398hg38UCSC Ensembl
chr14:31787886..31788604hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38719
hg19719
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501906
Supporting Variants
Samples
Known GenesHEATR5A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693533
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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