A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079180



Internal ID21456211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27608605..27608605hg38UCSC Ensembl
chr12:27761538..27761538hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg381981
hg191981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5660228
Supporting Variants
SamplesHG02492
Known GenesPPFIBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079180
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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