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nsv4352523

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:94,002,127
  • Description:NC_000007.13:g.(20954043_21001537)_(114528369_
    114556605)inv AND Childhood apraxia of speech
  • Publication(s):Morgan et al. 2016

Genome View

Select assembly:
Overlapping variant regions from other studies: 245569 SVs from 148 studies. See in: genome view    
Remapped(Score: Good):20,914,424-114,916,550Question Mark
Overlapping variant regions from other studies: 244111 SVs from 148 studies. See in: genome view    
Submitted genomic20,954,043-114,556,605Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nsv4352523RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr720,914,42420,914,424114,916,550114,916,550
nsv4352523Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr720,954,04321,001,537114,528,369114,556,605

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15606016inversionMultipleMultipleChildhood apraxia of speech; FOXP2-Related Speech and Language Disorders; SPEECH-LANGUAGE DISORDER 1; SPCH1; See individual phenotypes in OMIM allelic variants; Speech-language disorder 1PathogenicClinVarRCV000234948.1, VCV000242972.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrOuter StartInner StartInner StopOuter Stop
nssv15606016RemappedGoodNC_000007.14:g.(20
914424_20914424)_(
114916550_11491655
0)inv
GRCh38.p12First PassNC_000007.14Chr720,914,42420,914,424114,916,550114,916,550
nssv15606016Submitted genomicNC_000007.13:g.(20
954043_21001537)_(
114528369_11455660
5)inv
GRCh37 (hg19)NC_000007.13Chr720,954,04321,001,537114,528,369114,556,605

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv15606016GRCh37: NC_000007.13:g.(20954043_21001537)_(114528369_114556605)invinversiongermlineChildhood apraxia of speech; FOXP2-Related Speech and Language Disorders; SPEECH-LANGUAGE DISORDER 1; SPCH1; See individual phenotypes in OMIM allelic variants; Speech-language disorder 1PathogenicClinVarRCV000234948.1, VCV000242972.1

No genotype data were submitted for this variant

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