A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483793



Internal ID261220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:130284838..130285896hg38UCSC Ensembl
chr7:129924678..129925736hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg381059
hg191059
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17735736
Samples
Known GenesCPA2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483793
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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