A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5988652



Internal ID21897995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:28939106..28939178hg38UCSC Ensembl
chr2:29161972..29162044hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17536753
Samples
Known GenesWDR43
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5988652
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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