A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14313065



Internal ID22280834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41945973..41946093hg38UCSC Ensembl
chr4:41947990..41948110hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194992
Supporting Variants
SamplesNA19239
Known GenesTMEM33
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14313065
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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