A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512307



Internal ID288864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48143071..48364591hg38UCSC Ensembl
chr12:48536854..48758374hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38221521
hg19221521
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056867
Samples
Known GenesASB8, C12orf68, H1FNT, OR10AD1, PFKM, ZNF641
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512307
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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