A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5906028



Internal ID22681222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:209832676..209833786hg38UCSC Ensembl
chr2:210697400..210698510hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397550
Samples
Known GenesUNC80
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5906028
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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