A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17054304



Internal ID104033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:15361814..15390314hg38UCSC Ensembl
chr12:15514748..15543248hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3828501
hg1928501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5508022
Supporting Variants
Samples
Known GenesPTPRO
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17054304
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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