A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398111



Internal ID22455981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214124215..214129136hg38UCSC Ensembl
chr2:214988939..214993860hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg384922
hg194922
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5892872
Supporting Variants
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398111
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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