A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18186594



Internal ID20753634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19566467..19574038hg38UCSC Ensembl
chr17:19469780..19477351hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387572
hg197572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6514215
Supporting Variants
Samples
Known GenesSLC47A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18186594
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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