A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929825



Internal ID22705084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:128404576..128404767hg38UCSC Ensembl
chr12:128889121..128889312hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17369331
Samples
Known GenesTMEM132C
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929825
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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