A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17082172



Internal ID21436375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:58462761..58462761hg38UCSC Ensembl
chr12:58856544..58856544hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5664313
Supporting Variants
SamplesHG00731
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17082172
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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