A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187338



Internal ID20754378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2594522..2627348hg38UCSC Ensembl
chr17:2497816..2530642hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3832827
hg1932827
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497494
Supporting Variants
Samples
Known GenesPAFAH1B1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187338
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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