A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509740



Internal ID286388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110004521..110008718hg38UCSC Ensembl
chr12:110442326..110446523hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384198
hg194198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17684403
Samples
Known GenesANKRD13A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509740
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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