A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17472029



Internal ID22529921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70375891..70381007hg38UCSC Ensembl
chr18:68043127..68048243hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg385117
hg195117
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872070
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17472029
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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