A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17061866



Internal ID21486970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193161679..193161679hg38UCSC Ensembl
chr1:193130809..193130809hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5623628
Supporting Variants
SamplesNA12878
Known GenesCDC73
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17061866
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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