A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976341



Internal ID51622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:153573953..153574011hg38UCSC Ensembl
chr5:152953513..152953571hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5468179
Supporting Variants
Samples
Known GenesGRIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976341
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000624


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