A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886852



Internal ID22661841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43549190..43675530hg38UCSC Ensembl
chr2:43776329..43902669hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38126341
hg19126341
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397996
Samples
Known GenesLOC728819, PLEKHH2, THADA
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886852
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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