A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17399076



Internal ID22456946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134726781..134731025hg38UCSC Ensembl
chr2:135484351..135488595hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg384245
hg194245
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5889791
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17399076
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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