A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5962159



Internal ID22737095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178093379..178093379hg38UCSC Ensembl
chr2:178958106..178958106hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38556
hg19556
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390427
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5962159
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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