A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16963592



Internal ID43046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7683628..7683711hg38UCSC Ensembl
chr5:7683741..7683824hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457745
Supporting Variants
Samples
Known GenesADCY2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16963592
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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