A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17423635



Internal ID22481505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:88071020..88086646hg38UCSC Ensembl
chr4:88992172..89007798hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg3815627
hg1915627
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5898047
Supporting Variants
Samples
Known GenesPKD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17423635
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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