A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18218548



Internal ID20785588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56951901..56954400hg38UCSC Ensembl
chr6:56816699..56819198hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415142
Supporting Variants
Samples
Known GenesDST
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18218548
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00059


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