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nsv4716529

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:9,867,021
  • Description:GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289) AND Chromosome 2q32-q33 deletion syndrome
  • Publication(s):Zarate et al. 2017

Genome View

Select assembly:
Overlapping variant regions from other studies: 23758 SVs from 120 studies. See in: genome view    
Remapped(Score: Perfect):189,480,546-199,347,566Question Mark
Overlapping variant regions from other studies: 23758 SVs from 120 studies. See in: genome view    
Submitted genomic190,345,272-200,212,289Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4716529RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000002.12Chr2189,480,546199,347,566
nsv4716529Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000002.11Chr2190,345,272200,212,289

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv16252261copy number lossMultipleMultiple2q32q33 microdeletion syndrome; Chromosome 2q32-q33 deletion syndrome; GLASS SYNDROME; GLASS; SATB2-Associated Syndrome; See individual phenotypes in OMIM allelic variantsPathogenicClinVarRCV001255693.2, VCV000977790.2

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16252261RemappedPerfectNC_000002.12:g.(?_
189480546)_(199347
566_?)del
GRCh38.p12First PassNC_000002.12Chr2189,480,546199,347,566
nssv16252261Submitted genomicNC_000002.11:g.(?_
190345272)_(200212
289_?)del
GRCh37 (hg19)NC_000002.11Chr2190,345,272200,212,289

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv16252261GRCh37: NC_000002.11:g.(?_190345272)_(200212289_?)delcopy number lossde novo2q32q33 microdeletion syndrome; Chromosome 2q32-q33 deletion syndrome; GLASS SYNDROME; GLASS; SATB2-Associated Syndrome; See individual phenotypes in OMIM allelic variantsPathogenicClinVarRCV001255693.2, VCV000977790.2

No genotype data were submitted for this variant

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