A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871508



Internal ID22646446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25560516..25560594hg38UCSC Ensembl
chr2:25783385..25783463hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17403336
Samples
Known GenesDTNB
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871508
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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