A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5944589



Internal ID22720056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1564993..1571033hg38UCSC Ensembl
chr17:1468287..1474327hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg386041
hg196041
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376694
Samples
Known GenesSLC43A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5944589
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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