A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360786



Internal ID22586455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58085915..58086056hg38UCSC Ensembl
chr12:58479698..58479839hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933901
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360786
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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