A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18196921



Internal ID20763961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50085527..50086307hg38UCSC Ensembl
chr17:48162891..48163671hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg38781
hg19781
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6522605
Supporting Variants
Samples
Known GenesITGA3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18196921
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.85078


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