A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690383



Internal ID114049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101778931..101778982hg38UCSC Ensembl
chr12:102172709..102172760hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg381438
hg191438
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5557486
Supporting Variants
Samples
Known GenesGNPTAB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690383
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.022566


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