A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375083



Internal ID22600752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:83187222..83187317hg38UCSC Ensembl
chr15:83855974..83856069hg19UCSC Ensembl
Cytoband15q25.2
Allele length
AssemblyAllele length
hg3896
hg1996
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946985
Supporting Variants
Samples
Known GenesHDGFRP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375083
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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