A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17118694



Internal ID21447772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:43743497..43743497hg38UCSC Ensembl
chr21:45163378..45163378hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5671977
Supporting Variants
SamplesHG00732
Known GenesPDXK
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17118694
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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