A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17426677



Internal ID22484547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42743600..42743600hg38UCSC Ensembl
chr3:42785092..42785092hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950021
Supporting Variants
Samples
Known GenesCCDC13, CCDC13-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17426677
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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