A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432648



Internal ID21394650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:22604038..23133036hg38UCSC Ensembl
chr18:20184001..20713000hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg38528999
hg19529000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15748334
SamplesNB11
Known GenesMIR4741, RBBP8
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432648
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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