A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138058



Internal ID337240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149579587..149588587hg38UCSC Ensembl
chr1:148801845..148810647hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg389001
hg198803
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890167
Samples
Known GenesLOC101929780, PPIAL4D, PPIAL4E, PPIAL4F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138058
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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