A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088660



Internal ID21441378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48842514..48842514hg38UCSC Ensembl
chr12:49236297..49236297hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5655137
Supporting Variants
SamplesHG00732
Known GenesDDX23
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088660
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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