A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14371954



Internal ID22262093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:75154300..75154402hg38UCSC Ensembl
chr14:75621003..75621105hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224195
Supporting Variants
SamplesNA19238
Known GenesTMED10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14371954
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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