nsv5381790
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,166,301
- Description:GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3 AND Intellectual disability
- Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 4315 SVs from 114 studies. See in: genome view
Overlapping variant regions from other studies: 2503 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 4315 SVs from 114 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5381790 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 15,033,033 | 16,199,333 |
| nsv5381790 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,015,619 | 1,857,331 |
| nsv5381790 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 15,126,890 | 16,293,190 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16865902 | copy number gain | Multiple | Multiple | Intellectual Disability; Intellectual disability; Intellectual disability | Pathogenic | ClinVar | RCV001293648.2, VCV000997965.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16865902 | Remapped | Pass | NT_187607.1:g.1015 619_1857331dup | GRCh38.p12 | Second Pass | NT_187607.1 | Chr16|NT_1 87607.1 | 1,015,619 | 1,857,331 |
| nssv16865902 | Remapped | Perfect | NC_000016.10:g.150 33033_16199333dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 15,033,033 | 16,199,333 |
| nssv16865902 | Submitted genomic | NC_000016.9:g.1512 6890_16293190dup | GRCh37 (hg19) | NC_000016.9 | Chr16 | 15,126,890 | 16,293,190 |
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 | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv16865902 | GRCh37: NC_000016.9:g.15126890_16293190dup | copy number gain | paternal | Intellectual Disability; Intellectual disability; Intellectual disability | Pathogenic | ClinVar | RCV001293648.2, VCV000997965.1 | 3 |