A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394239



Internal ID22452109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:213567147..213573264hg38UCSC Ensembl
chr2:214431871..214437988hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg386118
hg196118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5904771
Supporting Variants
Samples
Known GenesSPAG16
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394239
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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