A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17426002



Internal ID22483872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150197920..150199248hg38UCSC Ensembl
chr5:149577483..149578811hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg381329
hg191329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5906838
Supporting Variants
Samples
Known GenesSLC6A7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17426002
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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