A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17685789



Internal ID109455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:133202027..133218629hg38UCSC Ensembl
chr12:133778613..133795215hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3816603
hg1916603
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501360
Supporting Variants
Samples
Known GenesANHX, ZNF268
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17685789
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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