nsv6314771
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:insertion
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:1,240
- Description:NG_021241.1:g.2522_3761= AND Attention deficit-hyperactivity disorder, susceptibility to
- Publication(s):Juyal et al. 2006, Kustanovich et al. 2004, McCracken et al. 2000, Seaman et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 193 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 193 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6314771 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 634,826 | 636,065 |
| nsv6314771 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 634,826 | 636,065 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv17976052 | insertion | Multiple | Multiple | See cases | risk factor | ClinVar | RCV000018256.3, VCV000016769.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv17976052 | Submitted genomic | NC_000011.10:g.634 826_636065ins1240 | GRCh38 (hg38) | NC_000011.10 | Chr11 | 634,826 | 636,065 |
| nssv17976052 | Submitted genomic | NC_000011.9:g.6348 26_636065ins1240 | GRCh37 (hg19) | NC_000011.9 | Chr11 | 634,826 | 636,065 |
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 |
|---|---|---|---|---|---|---|---|
| nssv17976052 | GRCh37: NC_000011.9:g.634826_636065ins1240, GRCh38: NC_000011.10:g.634826_636065ins1240 | insertion | germline | See cases | risk factor | ClinVar | RCV000018256.3, VCV000016769.1 |