A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17364234



Internal ID22589903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12285848..12287559hg38UCSC Ensembl
chr12:12438782..12440493hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg381712
hg191712
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916569
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17364234
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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