A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5895654



Internal ID22670739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173429129..173432040hg38UCSC Ensembl
chr2:174293857..174296768hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382912
hg192912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17407785
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5895654
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