A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970437



Internal ID47618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94168942..94169553hg38UCSC Ensembl
chr5:93504647..93505258hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5463958
Supporting Variants
Samples
Known GenesKIAA0825
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970437
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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