A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689258



Internal ID112924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:76004912..76004947hg38UCSC Ensembl
chr12:76398692..76398727hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563079
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689258
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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