A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964964



Internal ID43953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:9711973..9718268hg38UCSC Ensembl
chr5:9712085..9718380hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg386296
hg196296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463591
Supporting Variants
Samples
Known GenesLOC285692
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964964
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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