A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5875162



Internal ID22650118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98608821..98608885hg38UCSC Ensembl
chr2:99225284..99225348hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17404163
Samples
Known GenesUNC50
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5875162
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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