A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224195



Internal ID22367698
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14371955, nssv14371954, nssv14371956
SamplesNA19238, NA19239, NA19240
Known GenesTMED10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224195
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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