A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17109669



Internal ID21509467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171033547..171033547hg38UCSC Ensembl
chr2:171890057..171890057hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38295
hg19295
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5618438
Supporting Variants
SamplesNA20847
Known GenesTLK1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17109669
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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