nsv4352523
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:inversion
- Method Type:Multiple
- Submitted on:GRCh37
- 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
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 245569 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 244111 SVs from 148 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv4352523 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 20,914,424 | 20,914,424 | 114,916,550 | 114,916,550 |
| nsv4352523 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 20,954,043 | 21,001,537 | 114,528,369 | 114,556,605 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606016 | inversion | Multiple | Multiple | Childhood apraxia of speech; FOXP2-Related Speech and Language Disorders; SPEECH-LANGUAGE DISORDER 1; SPCH1; See individual phenotypes in OMIM allelic variants; Speech-language disorder 1 | Pathogenic | ClinVar | RCV000234948.1, VCV000242972.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15606016 | Remapped | Good | NC_000007.14:g.(20 914424_20914424)_( 114916550_11491655 0)inv | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 20,914,424 | 20,914,424 | 114,916,550 | 114,916,550 |
| nssv15606016 | Submitted genomic | NC_000007.13:g.(20 954043_21001537)_( 114528369_11455660 5)inv | GRCh37 (hg19) | NC_000007.13 | Chr7 | 20,954,043 | 21,001,537 | 114,528,369 | 114,556,605 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15606016 | GRCh37: NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv | inversion | germline | Childhood apraxia of speech; FOXP2-Related Speech and Language Disorders; SPEECH-LANGUAGE DISORDER 1; SPCH1; See individual phenotypes in OMIM allelic variants; Speech-language disorder 1 | Pathogenic | ClinVar | RCV000234948.1, VCV000242972.1 |