A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17408639



Internal ID22466509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169656912..169659530hg38UCSC Ensembl
chr2:170513422..170516040hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg382619
hg192619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893124
Supporting Variants
Samples
Known GenesCCDC173
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17408639
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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