A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17079181



Internal ID21456217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27613419..27613732hg38UCSC Ensembl
chr12:27766352..27766665hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5598086
Supporting Variants
SamplesHG02492
Known GenesPPFIBP1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17079181
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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