A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368038



Internal ID22593707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122655439..122658452hg38UCSC Ensembl
chr12:123139986..123142999hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg383014
hg193014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928495
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368038
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.040


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