A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690835



Internal ID114501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123681772..123681829hg38UCSC Ensembl
chr12:124166319..124166376hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500116
Supporting Variants
Samples
Known GenesTCTN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690835
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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