A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177429



Internal ID20744469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42960181..42964969hg38UCSC Ensembl
chr17:41112198..41116986hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384789
hg194789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6510311
Supporting Variants
Samples
Known GenesAARSD1, PTGES3L-AARSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177429
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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