A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139372



Internal ID338557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248370288..248775095hg38UCSC Ensembl
chr1:248533589..249069294hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38404808
hg19535706
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899729
Samples
Known GenesLYPD8, OR14I1, OR2G6, OR2T1, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T5, OR2T6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139372
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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