A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217496



Internal ID22363138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118034669..118035025hg38UCSC Ensembl
chr11:117905384..117905740hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38357
hg19357
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14361315, nssv14361316, nssv14361317
SamplesNA19239, HG00513, HG00514
Known GenesTMPRSS4-AS1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217496
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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