A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16972556



Internal ID49066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:102355914..102476627hg38UCSC Ensembl
chr5:101691618..101812331hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38120714
hg19120714
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5458872
Supporting Variants
Samples
Known GenesSLCO6A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16972556
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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