A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079183



Internal ID21456285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27617452..27617452hg38UCSC Ensembl
chr12:27770385..27770385hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5664444
Supporting Variants
SamplesHG02492
Known GenesPPFIBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079183
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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