A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371011



Internal ID22193615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:37162404..37302022hg38UCSC Ensembl
chr14:37631609..37771227hg19UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg38139619
hg19139619
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529770
Supporting Variants
SamplesHG00731
Known GenesMIPOL1, SLC25A21, SLC25A21-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371011
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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