A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17358172



Internal ID22583841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:195678469..195725035hg38UCSC Ensembl
chr1:195647599..195694165hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3846567
hg1946567
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871201
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17358172
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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