nsv3911563
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:31,720,995
- Description:GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 90989 SVs from 149 studies. See in: genome view
Overlapping variant regions from other studies: 44427 SVs from 132 studies. See in: genome view
Overlapping variant regions from other studies: 11429 SVs from 36 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3911563 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 36,449,220 | 68,170,214 |
| nsv3911563 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 48,563,237 | 65,936,105 |
| nsv3911563 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 45,918,236 | 63,677,950 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15146325 | copy number gain | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000050957.8, VCV000057282.1 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15146325 | Submitted genomic | NC_000017.11:g.(?_ 36449220)_(6817021 4_?)dup | GRCh38 (hg38) | NC_000017.11 | Chr17 | 36,449,220 | 68,170,214 |
| nssv15146325 | Submitted genomic | NC_000017.10:g.(?_ 48563237)_(6593610 5_?)dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 48,563,237 | 65,936,105 |
| nssv15146325 | Submitted genomic | NC_000017.9:g.(?_4 5918236)_(63677950 _?)dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 45,918,236 | 63,677,950 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15146325 | GRCh37: NC_000017.10:g.(?_48563237)_(65936105_?)dup, GRCh38: NC_000017.11:g.(?_36449220)_(68170214_?)dup, NCBI36: NC_000017.9:g.(?_45918236)_(63677950_?)dup | copy number gain | not provided | See cases | Pathogenic | ClinVar | RCV000050957.8, VCV000057282.1 | 3 |