A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17128517



Internal ID21416717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191390411..191390411hg38UCSC Ensembl
chr3:191108200..191108200hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5607805
Supporting Variants
SamplesHG00731
Known GenesCCDC50
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17128517
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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