A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402172



Internal ID181543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:112183351..112183402hg38UCSC Ensembl
chr7:111823406..111823457hg19UCSC Ensembl
Cytoband7q31.1
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 Variantsnssv17001628
Samples
Known GenesDOCK4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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