A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955597



Internal ID22730798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127856290..127856290hg38UCSC Ensembl
chr2:128613864..128613864hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38163
hg19163
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409034
Samples
Known GenesPOLR2D
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955597
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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