A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16894562



Internal ID170539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13229907..13376017hg38UCSC Ensembl
chr1:13335486..13702476hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38146111
hg19366991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6137877
Supporting Variants
Samples
Known GenesPRAMEF13, PRAMEF15, PRAMEF16, PRAMEF18, PRAMEF19, PRAMEF20, PRAMEF21, PRAMEF23, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16894562
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002034


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