A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871665



Internal ID22646603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42712774..42712853hg38UCSC Ensembl
chr2:42939914..42939993hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403438
Samples
Known GenesMTA3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871665
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