A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399800



Internal ID22457670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38437989..38439526hg38UCSC Ensembl
chr22:38833994..38835531hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg381538
hg191538
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5966188
Supporting Variants
Samples
Known GenesKCNJ4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399800
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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