A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6498128



Internal ID20871336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32872201..32880800hg38UCSC Ensembl
chr17:31199219..31207818hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg388600
hg198600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178864
Samples
Known GenesMYO1D
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6498128
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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