A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18182380



Internal ID20749420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16292143..16306120hg38UCSC Ensembl
chr17:16195457..16209434hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3813978
hg1913978
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6509965
Supporting Variants
Samples
Known GenesPIGL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18182380
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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