A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556008



Internal ID329155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:94281221..94281272hg38UCSC Ensembl
chr10:96040978..96041029hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38802
hg19802
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036502
Samples
Known GenesPLCE1, PLCE1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556008
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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