A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5399427



Internal ID178816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122419779..122419820hg38UCSC Ensembl
chr7:122059833..122059874hg19UCSC Ensembl
Cytoband7q31.32
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 Variantsnssv17001821
Samples
Known GenesCADPS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5399427
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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