A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366807



Internal ID22592476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182577138..182578709hg38UCSC Ensembl
chr1:182546273..182547844hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg381572
hg191572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878860
Supporting Variants
Samples
Known GenesRNASEL
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366807
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