A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5898502



Internal ID22673618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182305993..182340641hg38UCSC Ensembl
chr2:183170720..183205368hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3834649
hg1934649
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17392800
Samples
Known GenesPDE1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5898502
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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