A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532906



Internal ID308813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13026000..13313111hg38UCSC Ensembl
chr17:12929317..13216428hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38287112
hg19287112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711525
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532906
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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