A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974415



Internal ID50314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:136227172..136227337hg38UCSC Ensembl
chr5:135562860..135563025hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455009
Supporting Variants
Samples
Known GenesTRPC7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974415
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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