A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690713



Internal ID114379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113202128..113214128hg38UCSC Ensembl
chr12:113639933..113651933hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3812001
hg1912001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143311
Supporting Variants
Samples
Known GenesIQCD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690713
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000946


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