A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5510855



Internal ID287463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128387086..128399761hg38UCSC Ensembl
chr12:128871631..128884306hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3812676
hg1912676
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17685317
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5510855
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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