A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531738



Internal ID307686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6446632..6447180hg38UCSC Ensembl
chr17:6349952..6350500hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38549
hg19549
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711121
Samples
Known GenesFAM64A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531738
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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