A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17077181



Internal ID21415550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111326378..111326378hg38UCSC Ensembl
chr12:111764182..111764182hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5647512
Supporting Variants
SamplesHG00731
Known GenesCUX2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17077181
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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