A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063216



Internal ID21412760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:229157347..229157347hg38UCSC Ensembl
chr1:229293094..229293094hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5607477
Supporting Variants
SamplesHG00513
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17063216
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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