A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505131



Internal ID281913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123628459..123712468hg38UCSC Ensembl
chr12:124113006..124197015hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3884010
hg1984010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690830
Samples
Known GenesATP6V0A2, EIF2B1, GTF2H3, TCTN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505131
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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