A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189532



Internal ID20756572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44189965..44190305hg38UCSC Ensembl
chr17:42267333..42267673hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38341
hg19341
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6502865
Supporting Variants
Samples
Known GenesTMUB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189532
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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