A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688875



Internal ID112541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69353735..69363240hg38UCSC Ensembl
chr12:69747515..69757020hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg389506
hg199506
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502346
Supporting Variants
Samples
Known GenesLYZ, YEATS4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688875
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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