A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16293735



Internal ID20502953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129698527..129698527hg38UCSC Ensembl
chr12:130183072..130183072hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4758810
Supporting Variants
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16293735
Frequency
Sample Size25
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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