A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906754



Internal ID22681957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165158183..165160233hg38UCSC Ensembl
chr2:166014693..166016743hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg382051
hg192051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391453
Samples
Known GenesSCN3A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906754
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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