A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17059931



Internal ID21491981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111458633..111458633hg38UCSC Ensembl
chr1:112001255..112001255hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5613174
Supporting Variants
SamplesNA19238
Known GenesATP5F1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17059931
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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