A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17714623



Internal ID138289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:75287237..75287324hg38UCSC Ensembl
chr17:73283318..73283405hg19UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5531342
Supporting Variants
Samples
Known GenesSLC25A19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17714623
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.014986


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