A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001208



Internal ID68388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78787489..78787645hg38UCSC Ensembl
chr7:78416805..78416961hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38157
hg19157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5489603
Supporting Variants
Samples
Known GenesMAGI2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001208
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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