A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194281



Internal ID20761321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13912445..13922665hg38UCSC Ensembl
chr18:13912444..13922664hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3810221
hg1910221
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6533764
Supporting Variants
Samples
Known GenesMC2R
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194281
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