A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527744



Internal ID303828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15729486..15773811hg38UCSC Ensembl
chr17:15632800..15677125hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3844326
hg1944326
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711725
Samples
Known GenesCDRT15P2, TBC1D26
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527744
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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