A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5513634



Internal ID290153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:41384290..41424201hg38UCSC Ensembl
chr12:41778092..41818003hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3839912
hg1939912
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056675
Samples
Known GenesPDZRN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5513634
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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