A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17058546



Internal ID106889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51035633..51071431hg38UCSC Ensembl
chr12:51429416..51465214hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3835799
hg1935799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5500359
Supporting Variants
Samples
Known GenesCSRNP2, LETMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17058546
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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