A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5396660



Internal ID176075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48892894..48892945hg38UCSC Ensembl
chr10:50100939..50100990hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036025
Samples
Known GenesWDFY4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5396660
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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