A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17126261



Internal ID21453167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:184689083..184689083hg38UCSC Ensembl
chr4:185610237..185610237hg19UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5630364
Supporting Variants
SamplesHG02011
Known GenesPRIMPOL
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17126261
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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