A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390427



Internal ID22448297
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 StatusS
Merged Variantsnsv5962159
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390427
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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