A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2791630



Internal ID21236968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129087919..129087919hg38UCSC Ensembl
chr12:129572464..129572464hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13689882
Samples
Known GenesTMEM132D
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2791630
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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