A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6499579



Internal ID20872800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19547068..19591489hg38UCSC Ensembl
chr17:19450381..19494802hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3844422
hg1944422
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18181200
Samples
Known GenesSLC47A1, SNORA59A, SNORA59B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6499579
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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