A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077392



Internal ID21404838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109209972..109209972hg38UCSC Ensembl
chr12:109647777..109647777hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5654979
Supporting Variants
SamplesHG00512
Known GenesACACB
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077392
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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