A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560056



Internal ID333072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:94923748..94923752hg38UCSC Ensembl
chr7:94553060..94553064hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg385407
hg195407
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16999682
Samples
Known GenesPPP1R9A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560056
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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