A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17684399



Internal ID108065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109943171..109943214hg38UCSC Ensembl
chr12:110380976..110381019hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38254
hg19254
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5424553
Supporting Variants
Samples
Known GenesGIT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17684399
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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