A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15751306



Internal ID21392651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7449115..7452114hg38UCSC Ensembl
chr19:7514001..7517000hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432887
Supporting Variants
SamplesSMI041
Known GenesARHGEF18
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15751306
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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