A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946267



Internal ID22721754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:62830308..62832041hg38UCSC Ensembl
chr17:60907669..60909402hg19UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg381734
hg191734
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17375556
Samples
Known GenesMIR548W
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946267
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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