A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17367797



Internal ID22593466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98002737..98019811hg38UCSC Ensembl
chr12:98396515..98413589hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3817075
hg1917075
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930252
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17367797
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004


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