A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489872



Internal ID267142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49884368..49929368hg38UCSC Ensembl
chr10:51092414..51358990hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3845001
hg19266577
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036093
Samples
Known GenesAGAP8, LOC728407, PARG
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489872
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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