A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6139093



Internal ID338277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12790000..12946337hg38UCSC Ensembl
chr1:12850149..13006163hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38156338
hg19156015
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894374
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6139093
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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