A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515629



Internal ID292110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4798328..4821338hg38UCSC Ensembl
chr17:4701623..4724633hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3823011
hg1923011
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711007
Samples
Known GenesPLD2, PSMB6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515629
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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