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  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:15,009
  • 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: 1117 SVs from 82 studies. See in: genome view    
Remapped(Score: Good):90,055,411-90,070,419Question Mark
Overlapping variant regions from other studies: 1122 SVs from 79 studies. See in: genome view    
Submitted genomic90,094,257-90,109,261Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartOuter Stop
esv3648978RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr290,055,41190,070,419
esv3648978Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr290,094,25790,109,261

Variant Call Information

Variant Call IDTypeMethodAnalysisClinical InterpretationSource of InterpretationClinVar ID
essv16463298deletionSNP arrayProbe signal intensitynot providedClinVarSCV000191182

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartOuter Stop
GRCh38.p12First PassNC_000002.12Chr290,055,41190,070,419
essv16463298Submitted genomicNC_000002.11:g.(90
GRCh37 (hg19)NC_000002.11Chr290,094,25790,109,261

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeClinical InterpretationSource of InterpretationClinVar ID
essv16463298GRCh37: NC_000002.11:g.(90094257_?)_(?_90109261)deldeletionnot providedClinVarSCV000191182

No genotype data were submitted for this variant

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