A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17394534



Internal ID22452404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117998981..117999043hg38UCSC Ensembl
chr2:118756557..118756619hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896591
Supporting Variants
Samples
Known GenesCCDC93
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17394534
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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