A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18082066



Internal ID20649106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176688901..176695800hg38UCSC Ensembl
chr2:177553629..177560528hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386900
hg196900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6343998
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18082066
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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