A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483992



Internal ID261415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:116905386..117056371hg38UCSC Ensembl
chr7:116545440..116696425hg19UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38150986
hg19150986
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17001423
Samples
Known GenesCAPZA2, MIR6132, ST7, ST7-AS1, ST7-OT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483992
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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