A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181582



Internal ID20748622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82843753..82851298hg38UCSC Ensembl
chr12:83237532..83245077hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387546
hg197546
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462712
Supporting Variants
Samples
Known GenesTMTC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181582
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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