nsv6638081
- 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
- Description:NM_002240.5(KCNJ6):c.947-6762_947-6761insGTTTG
TTTGTGGTGTGTGTTTTTTGTTGTTGGAGACGGAGTTCTCGCTCTGTCGGCCCTAGGC
CGCGACGGCGGACTGCAGTGGCGCAATCTAGTGCGCCAGCTGCAAGCTCCGCTGGCCG
GGGTGCACGCACTCTATTTCTCCTGTCCTCTAGCCTGCCCGGAGTAGCTGGGAACTAC
AGGCGCCCGCCACTGCGCCCGGCTAATGTGTGGAGTTTTTAGTAGAGGAGGGGGGTCA
CCTTGTTGTGAGACAGGATATGGTGTCTGCGATCTCGGACCTCATGATACACCCGCCT
AACGGCTCCAAAGTGCGGGGCTGACAGGCGTGGCCAACGCGCTTCCGGCCCGGCC AND Schizophrenia
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 99 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 99 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv6638081 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000021.9 | Chr21 | 37,632,245 | 37,632,245 |
| nsv6638081 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 39,004,547 | 39,004,547 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv18330637 | insertion | Multiple | Multiple | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463558.1, VCV001801466.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv18330637 | Submitted genomic | NC_000021.9:g.3763 2245_37632246ins35 0 | GRCh38 (hg38) | NC_000021.9 | Chr21 | 37,632,245 | 37,632,245 |
| nssv18330637 | Submitted genomic | NC_000021.8:g.3900 4547_39004548ins35 0 | GRCh37 (hg19) | NC_000021.8 | Chr21 | 39,004,547 | 39,004,547 |
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 |
|---|---|---|---|---|---|---|---|
| nssv18330637 | GRCh37: NC_000021.8:g.39004547_39004548ins350, GRCh38: NC_000021.9:g.37632245_37632246ins350 | insertion | unknown | SCHIZOPHRENIA; SCZD; Schizophrenia; Schizophrenia; schizophrenia (disease) | Uncertain significance | ClinVar | RCV002463558.1, VCV001801466.1 |