A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5887014



Internal ID22662004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:15687342..15754480hg38UCSC Ensembl
chr1:16013837..16080975hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3867139
hg1967139
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17362091
Samples
Known GenesPLEKHM2, SLC25A34, TMEM82
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5887014
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