A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190776



Internal ID20757816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:49846029..49847819hg38UCSC Ensembl
chr17:47923391..47925181hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381791
hg191791
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6519530
Supporting Variants
Samples
Known GenesFLJ45513, TAC4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190776
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00339


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