A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17419073



Internal ID22476943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:28737413..28744527hg38UCSC Ensembl
chr5:28737520..28744634hg19UCSC Ensembl
Cytoband5p14.1
Allele length
AssemblyAllele length
hg387115
hg197115
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5893336
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17419073
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer