A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17436381



Internal ID22494251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:79008527..79008720hg38UCSC Ensembl
chr7:78637843..78638036hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5925498
Supporting Variants
Samples
Known GenesMAGI2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17436381
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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