A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699475



Internal ID123141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:92495814..92495947hg38UCSC Ensembl
chr14:92962158..92962291hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5510102
Supporting Variants
Samples
Known GenesSLC24A4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699475
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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