A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17094613



Internal ID21500849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93191252..93191252hg38UCSC Ensembl
chr12:93585028..93585028hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5645595
Supporting Variants
SamplesNA19239
Known GenesLOC643339
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17094613
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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