A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17387660



Internal ID22445530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:48882021..49020571hg38UCSC Ensembl
chr14:49351224..49489768hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38138551
hg19138545
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5938436
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17387660
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.106


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