A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5406422



Internal ID185762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241151657..241151708hg38UCSC Ensembl
chr2:242091072..242091123hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927165
Samples
Known GenesPPP1R7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5406422
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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