A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223886



Internal ID22367513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43907834..43909457hg38UCSC Ensembl
chr12:44301637..44303260hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381624
hg191624
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14363938, nssv14363937, nssv14363936, nssv14363935, nssv14363939, nssv14363934
SamplesHG00512, HG00731, NA19240, HG00733, HG00513, HG00514
Known GenesTMEM117
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223886
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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