A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388749



Internal ID22446619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:28538206..28539481hg38UCSC Ensembl
chr13:29112343..29113618hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5944227
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388749
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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