A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505366



Internal ID282144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19277210..19277311hg38UCSC Ensembl
chr12:19430144..19430245hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056166
Samples
Known GenesPLEKHA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505366
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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