A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479740



Internal ID257257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49874368..50014368hg38UCSC Ensembl
chr10:51082414..51774128hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg38140001
hg19691715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17036092
Samples
Known GenesAGAP6, AGAP7, AGAP8, LOC728407, MSMB, NCOA4, PARG, TIMM23
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479740
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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