A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5495795



Internal ID272891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128629846..129247751hg38UCSC Ensembl
chr12:129114391..129732296hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38617906
hg19617906
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685329
Samples
Known GenesGLT1D1, LOC283352, SLC15A4, TMEM132C, TMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5495795
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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