A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17053030



Internal ID103199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10408650..10422100hg38UCSC Ensembl
chr12:10561249..10574699hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3813451
hg1913451
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5495898
Supporting Variants
Samples
Known GenesKLRC3, KLRC4, KLRC4-KLRK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17053030
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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