A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5460471



Internal ID238452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31119831..31186318hg38UCSC Ensembl
chr6:31087608..31154095hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3866488
hg1966488
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980947
Samples
Known GenesCCHCR1, CDSN, POU5F1, PSORS1C1, PSORS1C2, PSORS1C3, TCF19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5460471
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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