A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17006703



Internal ID72087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6871746..7106683hg38UCSC Ensembl
chr8:6729268..6964205hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38234938
hg19234938
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5485612
Supporting Variants
Samples
Known GenesDEFA1, DEFA10P, DEFA11P, DEFA1B, DEFA3, DEFA4, DEFA5, DEFA6, DEFA8P, DEFA9P, DEFB1, DEFT1P, DEFT1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17006703
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001718


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