A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4434147



Internal ID21396149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:1116046..1119678hg38UCSC Ensembl
chr4:1109834..1113466hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383633
hg193633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15750471, nssv15748065
SamplesSMI034, SMI041
Known GenesTMED11P
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4434147
Frequency
Sample Size15
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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