A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690243



Internal ID113909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99057024..99301798hg38UCSC Ensembl
chr12:99450802..99695576hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38244775
hg19244775
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5497010
Supporting Variants
Samples
Known GenesANKS1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690243
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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