A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17360442



Internal ID22586111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171146064..171151224hg38UCSC Ensembl
chr1:171115203..171120363hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg385161
hg195161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5878602
Supporting Variants
Samples
Known GenesFMO6P
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17360442
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