A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195736



Internal ID20762776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:51111519..51120645hg38UCSC Ensembl
chr18:48637889..48647015hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg389127
hg199127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6527575
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195736
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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