A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17001177



Internal ID68371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:78298508..78704406hg38UCSC Ensembl
chr7:77927825..78333722hg19UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38405899
hg19405898
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5484682
Supporting Variants
Samples
Known GenesMAGI2, MIR548AU, RPL13AP17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17001177
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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