A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17363847



Internal ID22589516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227453482..227456609hg38UCSC Ensembl
chr1:227641183..227644310hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg383128
hg193128
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876881
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17363847
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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