A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414716



Internal ID193984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17686623..17692638hg38UCSC Ensembl
chr1:18013118..18019133hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386016
hg196016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898821
Samples
Known GenesARHGEF10L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414716
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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