A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190952



Internal ID20757992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:6098695..6146721hg38UCSC Ensembl
chr10:6140658..6188684hg19UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg3848027
hg1948027
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6451831
Supporting Variants
Samples
Known GenesPFKFB3, RBM17
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190952
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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