A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898204



Internal ID22673317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:200366123..200366579hg38UCSC Ensembl
chr2:201230846..201231302hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38457
hg19457
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17391087
Samples
Known GenesSPATS2L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898204
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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