A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560443



Internal ID333450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92745337..92748451hg38UCSC Ensembl
chr12:93139113..93142227hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383115
hg193115
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684120
Samples
Known GenesPLEKHG7
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560443
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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