A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2801548



Internal ID21246886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220112114..220112433hg38UCSC Ensembl
chr1:220285456..220285775hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13685263
Samples
Known GenesIARS2, RNU5F-1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2801548
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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