A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5905844



Internal ID22681037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127798094..127799655hg38UCSC Ensembl
chr2:128555668..128557229hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381562
hg191562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397893
Samples
Known GenesWDR33
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5905844
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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