A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505997



Internal ID282755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118048438..118056705hg38UCSC Ensembl
chr12:118486243..118494510hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg388268
hg198268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684778
Samples
Known GenesWSB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505997
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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