A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463142



Internal ID241055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:1582681..1583974hg38UCSC Ensembl
chr7:1622317..1623610hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg381294
hg191294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735615
Samples
Known GenesPSMG3-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463142
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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