A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001247



Internal ID68416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79111693..79128897hg38UCSC Ensembl
chr7:78741009..78758213hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg3817205
hg1917205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477099
Supporting Variants
Samples
Known GenesMAGI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001247
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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