A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17368554



Internal ID22594223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117237853..117238472hg38UCSC Ensembl
chr1:117780475..117781094hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871722
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17368554
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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