A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894374



Internal ID170408
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 StatusS
Merged Variantsnsv6139093
Supporting Variants
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)nssv16894374
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.017126


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