A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446442



Internal ID224764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:232465714..232468280hg38UCSC Ensembl
chr1:232601460..232604026hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382567
hg192567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898587
Samples
Known GenesSIPA1L2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446442
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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