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  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:6,401
  • Description:PLEASE NOTE: The calls represented in this region now have equivalents in the study Clinical Structural Variants (nstd102). Please use the preferred nstd102 variant region accession for this variant; you can find it at top right under "Links to Other Resources" or in the mapping file provided here.
  • Publication(s):Kasak et al. 2015

Genome View

Select assembly:
Overlapping variant regions from other studies: 118 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):99,439,301-99,445,701Question Mark
Overlapping variant regions from other studies: 118 SVs from 26 studies. See in: genome view    
Submitted genomic100,055,763-100,062,163Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
esv3648980RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr299,439,30199,445,701
esv3648980Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2100,055,763100,062,163

Variant Call Information

Variant Call IDTypeMethodAnalysisClinical InterpretationSource of InterpretationClinVar ID
essv16463300duplicationSNP arrayProbe signal intensitynot providedClinVarSCV000191184

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartOuter Stop
GRCh38.p12First PassNC_000002.12Chr299,439,30199,445,701
essv16463300Submitted genomicNC_000002.11:g.(10
GRCh37 (hg19)NC_000002.11Chr2100,055,763100,062,163

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeClinical InterpretationSource of InterpretationClinVar ID
essv16463300GRCh37: NC_000002.11:g.(100055763_?)_(?_100062163)dupduplicationnot providedClinVarSCV000191184

No genotype data were submitted for this variant

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