A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5882498



Internal ID22657475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117066098..117066963hg38UCSC Ensembl
chr1:117608720..117609585hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg38866
hg19866
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362910
Samples
Known GenesTTF2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5882498
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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