A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6515348



Internal ID20888707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31465268..31478088hg38UCSC Ensembl
chr16:31476589..31489409hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3812821
hg1912821
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182490
Samples
Known GenesARMC5, TGFB1I1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6515348
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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