A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18225102



Internal ID20792142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:56247101..56248800hg38UCSC Ensembl
chr6:56111899..56113598hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6396107
Supporting Variants
Samples
Known GenesCOL21A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18225102
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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