A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690318



Internal ID113984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100407077..100407153hg38UCSC Ensembl
chr12:100800855..100800931hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504955
Supporting Variants
Samples
Known GenesSLC17A8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690318
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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