A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496804



Internal ID20870007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43756375..43767241hg38UCSC Ensembl
chr17:41833743..41844609hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810867
hg1910867
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185082
Samples
Known GenesDUSP3, SOST
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496804
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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