A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17126378



Internal ID21510691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56584259..56584259hg38UCSC Ensembl
chr3:56618287..56618287hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5607037
Supporting Variants
SamplesNA24385
Known GenesCCDC66
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17126378
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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