A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181672



Internal ID20748712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:51174518..51183308hg38UCSC Ensembl
chr17:49251879..49260669hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg388791
hg198791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6525718
Supporting Variants
Samples
Known GenesMBTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181672
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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