A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17404671



Internal ID22462541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17613902..17614903hg38UCSC Ensembl
chr22:18096668..18097669hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg381002
hg191002
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5948074
Supporting Variants
Samples
Known GenesATP6V1E1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17404671
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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