A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532965



Internal ID308864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3037900..3077092hg38UCSC Ensembl
chr17:2941194..2980386hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3839193
hg1939193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710364
Samples
Known GenesOR1D5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532965
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer