A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5904102



Internal ID22679276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200981868..200988257hg38UCSC Ensembl
chr2:201846591..201852980hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386390
hg196390
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17398982
Samples
Known GenesFAM126B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5904102
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