A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367249



Internal ID22592918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125437557..125437557hg38UCSC Ensembl
chr12:125922103..125922103hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5973608
Supporting Variants
Samples
Known GenesTMEM132B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367249
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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