A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512412



Internal ID288966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124084325..124084623hg38UCSC Ensembl
chr12:124568872..124569170hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38299
hg19299
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690858
Samples
Known GenesZNF664-FAM101A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512412
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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