A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17390705



Internal ID22448575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100148973..100164986hg38UCSC Ensembl
chr3:99867817..99883830hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3816014
hg1916014
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5900211
Supporting Variants
Samples
Known GenesCMSS1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17390705
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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