A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17407781



Internal ID22465651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134547614..134547614hg38UCSC Ensembl
chr3:134266456..134266456hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5960504
Supporting Variants
Samples
Known GenesCEP63
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17407781
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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