A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16980947



Internal ID54673
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 StatusS
Merged Variantsnsv5460471
Supporting Variants
Samples
Known GenesCCHCR1, CDSN, POU5F1, PSORS1C1, PSORS1C2, PSORS1C3, TCF19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16980947
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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