A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872084



Internal ID22647022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101295088..101295884hg38UCSC Ensembl
chr2:101911550..101912346hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394796
Samples
Known GenesRNF149
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872084
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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