A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15746136



Internal ID21385126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7449115..7451114hg38UCSC Ensembl
chr19:7514001..7516000hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382000
hg192000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4432886
Supporting Variants
SamplesBTQ038
Known GenesARHGEF18
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15746136
Frequency
Sample Size15
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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