A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399571



Internal ID22457441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177685103..177714810hg38UCSC Ensembl
chr2:178549831..178579538hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3829708
hg1929708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894141
Supporting Variants
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399571
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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