A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5955832



Internal ID22731028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:48502400..48502400hg38UCSC Ensembl
chr2:48729539..48729539hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399660
Samples
Known GenesPPP1R21
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5955832
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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