A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430953



Internal ID22488823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123494108..123497656hg38UCSC Ensembl
chr9:126256387..126259935hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg383549
hg193549
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5922789
Supporting Variants
Samples
Known GenesDENND1A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430953
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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