A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17084571



Internal ID21447035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46975842..46975842hg38UCSC Ensembl
chr12:47369625..47369625hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg381049
hg191049
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5653159
Supporting Variants
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17084571
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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