A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512164



Internal ID288730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102136270..102138659hg38UCSC Ensembl
chr12:102530048..102532437hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg382390
hg192390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690404
Samples
Known GenesPARPBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512164
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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