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nsv4674572

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:16,797,981

Genome View

Select assembly:
Overlapping variant regions from other studies: 41167 SVs from 122 studies. See in: genome view    
Remapped(Score: Good):114,562,591-131,360,571Question Mark
Overlapping variant regions from other studies: 41184 SVs from 123 studies. See in: genome view    
Submitted genomic114,433,313-131,230,466Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStop
nsv4674572RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000011.10Chr11114,562,591131,360,571
nsv4674572Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000011.9Chr11114,433,313131,230,466

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv16207657deletionMultipleMultipleAnemia; Anemia; Failure to thrive; Failure to thrive; Neurodevelopmental delay; Neurodevelopmental delay; Short stature; Short stature; Sparse hair; Sparse hair; Splenomegaly; Splenomegaly; Strabismus; Strabismus; Thrombocytopenia; Thrombocytopenia; ThrombocytopeniaLikely pathogenicClinVarRCV001003892.1, VCV000812956.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStop
nssv16207657RemappedGoodNC_000011.10:g.114
562591_131360571de
l
GRCh38.p12First PassNC_000011.10Chr11114,562,591131,360,571
nssv16207657Submitted genomicNC_000011.9:g.1144
33313_131230466del
GRCh37 (hg19)NC_000011.9Chr11114,433,313131,230,466

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv16207657GRCh37: NC_000011.9:g.114433313_131230466deldeletionunknownAnemia; Anemia; Failure to thrive; Failure to thrive; Neurodevelopmental delay; Neurodevelopmental delay; Short stature; Short stature; Sparse hair; Sparse hair; Splenomegaly; Splenomegaly; Strabismus; Strabismus; Thrombocytopenia; Thrombocytopenia; ThrombocytopeniaLikely pathogenicClinVarRCV001003892.1, VCV000812956.1

No genotype data were submitted for this variant

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