A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5590649



Internal ID21539218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:8885621..8885801hg38UCSC Ensembl
chr17:8788938..8789118hg19UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17100409
SamplesHG00732
Known GenesPIK3R5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5590649
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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