A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056385



Internal ID105413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44955128..44980300hg38UCSC Ensembl
chr12:45348911..45374083hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3825173
hg1925173
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502095
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056385
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000469


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