A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15750471



Internal ID21393121
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 StatusS
Merged Variantsnsv4434147
Supporting Variants
SamplesSMI041
Known GenesTMED11P
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nssv15750471
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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