A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17132550



Internal ID21488757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2080410..2080410hg38UCSC Ensembl
chr4:2082137..2082137hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5610801
Supporting Variants
SamplesNA18939
Known GenesPOLN
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17132550
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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