A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17078730



Internal ID21438017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132717335..132717335hg38UCSC Ensembl
chr12:133293921..133293921hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5662432
Supporting Variants
SamplesHG00731
Known GenesPGAM5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17078730
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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