A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438078



Internal ID216649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248564364..248654364hg38UCSC Ensembl
chr1:248727665..248817665hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3890001
hg1990001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898847
Samples
Known GenesOR2T10, OR2T11, OR2T27, OR2T34, OR2T35
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438078
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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