A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182078



Internal ID20749118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:27436801..27438542hg38UCSC Ensembl
chr13:28010938..28012679hg19UCSC Ensembl
Cytoband13q12.2
Allele length
AssemblyAllele length
hg381742
hg191742
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475631
Supporting Variants
Samples
Known GenesMTIF3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182078
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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