A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5899050



Internal ID22674176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112543345..112673811hg38UCSC Ensembl
chr2:113300922..113431388hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38130467
hg19130467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392693
Samples
Known GenesCHCHD5, FLJ42351, POLR1B, SLC20A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5899050
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