A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6504469



Internal ID20877730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45873387..45884349hg38UCSC Ensembl
chr17:43950753..43961715hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3810963
hg1910963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18182442
Samples
Known GenesMAPT-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6504469
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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