A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5487629



Internal ID264963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:94179156..94184416hg38UCSC Ensembl
chr10:95938913..95944173hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg385261
hg195261
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17037959
Samples
Known GenesPLCE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5487629
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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