A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189223



Internal ID20756263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5544975..5822109hg38UCSC Ensembl
chr17:5448295..5725429hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38277135
hg19277135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6515310
Supporting Variants
Samples
Known GenesLOC339166, NLRP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189223
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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