A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358607



Internal ID22584276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248549151..248594101hg38UCSC Ensembl
chr1:248712452..248757402hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3844951
hg1944951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5874143
Supporting Variants
Samples
Known GenesOR2T10, OR2T29, OR2T34
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358607
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