A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377571



Internal ID22435441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:40132596..40132655hg38UCSC Ensembl
chr1:40598268..40598327hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5872271
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377571
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1.00


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