A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16961583



Internal ID41690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1022000..1374000hg38UCSC Ensembl
chr5:1022115..1374115hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38352001
hg19352001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140342
Supporting Variants
Samples
Known GenesCLPTM1L, MIR4457, MIR4635, NKD2, SLC12A7, SLC6A18, SLC6A19, TERT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16961583
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000159


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