A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13703570



Internal ID21225382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129698544..129698544hg38UCSC Ensembl
chr12:130183089..130183089hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2791869
Supporting Variants
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13703570
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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