A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417065



Internal ID196270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114780192..114780448hg38UCSC Ensembl
chr1:115322813..115323069hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38257
hg19257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889625
Samples
Known GenesSIKE1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417065
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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