A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969696



Internal ID47115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130315688..130315745hg38UCSC Ensembl
chr6:130636833..130636890hg19UCSC Ensembl
Cytoband6q23.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5455941
Supporting Variants
Samples
Known GenesSAMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969696
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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