A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5919480



Internal ID22694702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130288236..130288306hg38UCSC Ensembl
chr7:129928076..129928146hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430394
Samples
Known GenesCPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5919480
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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