A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512036



Internal ID288603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:102688625..102697454hg38UCSC Ensembl
chr14:103154962..103163791hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg388830
hg198830
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17698386
Samples
Known GenesRCOR1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512036
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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