A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17088564



Internal ID21484245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46155803..46155803hg38UCSC Ensembl
chr12:46549586..46549586hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38390
hg19390
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5656777
Supporting Variants
SamplesNA12329
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17088564
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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