A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16981938



Internal ID55316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31981100..32046000hg38UCSC Ensembl
chr6:31948877..32013777hg19UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3864901
hg1964901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6140684
Supporting Variants
Samples
Known GenesC4A, C4B, C4B_2, CYP21A1P, CYP21A2, STK19, TNXA, TNXB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16981938
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.15222


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer