A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138512



Internal ID337696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120861000..120903000hg38UCSC Ensembl
chr1:148777781..148819061hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3842001
hg1941281
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889973
Samples
Known GenesLOC101929780, PPIAL4D, PPIAL4E, PPIAL4F
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138512
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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