A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17428693



Internal ID22486563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:78269605..78418305hg38UCSC Ensembl
chr3:78318755..78467455hg19UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38148701
hg19148701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5897156
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17428693
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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