A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371842



Internal ID22277148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53881587..53889193hg38UCSC Ensembl
chr14:54348305..54355911hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg387607
hg197607
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216914
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371842
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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