A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194114



Internal ID20761154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:22093991..22573535hg38UCSC Ensembl
chr17:21666609..22072862hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38479545
hg19406254
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497015
Supporting Variants
Samples
Known GenesFAM27L, FLJ36000, MTRNR2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194114
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.61909


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