A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423114



Internal ID202139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:9053409..9057641hg38UCSC Ensembl
chr1:9113468..9117700hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg384233
hg194233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889538
Samples
Known GenesSLC2A5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423114
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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