A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17123870



Internal ID21453578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:168275581..168275581hg38UCSC Ensembl
chr3:167993369..167993369hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg386059
hg196059
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5616432
Supporting Variants
SamplesHG02011
Known GenesEGFEM1P
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17123870
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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