A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371252



Internal ID22596921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5836343..5872474hg38UCSC Ensembl
chr17:5739663..5775794hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3836132
hg1936132
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929753
Supporting Variants
Samples
Known GenesLOC339166
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371252
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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