A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17094427



Internal ID21482535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:42996331..42996331hg38UCSC Ensembl
chr12:43390134..43390134hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg382353
hg192353
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5649512
Supporting Variants
SamplesHG03732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17094427
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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