A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495234



Internal ID272353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19162925..19168487hg38UCSC Ensembl
chr12:19315859..19321421hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg385563
hg195563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056152
Samples
Known GenesPLEKHA5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495234
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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