A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5402616



Internal ID181985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166846165..166846216hg38UCSC Ensembl
chr4:167767316..167767367hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958373
Samples
Known GenesSPOCK3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5402616
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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