A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17693407



Internal ID117073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23939284..23939284hg38UCSC Ensembl
chr14:24408493..24408493hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5536918
Supporting Variants
Samples
Known GenesDHRS4-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17693407
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.17673


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