nsv3921455
- 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:908,286
- Description:GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1 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: 2225 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 2227 SVs from 86 studies. See in: genome view
Overlapping variant regions from other studies: 551 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3921455 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 49,361,155 | 50,269,440 |
| nsv3921455 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 47,438,517 | 48,346,801 |
| nsv3921455 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 44,793,516 | 45,701,800 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15137349 | copy number loss | Multiple | Multiple | See cases | Pathogenic | ClinVar | RCV000139901.4, VCV000151158.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15137349 | Submitted genomic | NC_000017.11:g.(?_ 49361155)_(5026944 0_?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 49,361,155 | 50,269,440 |
| nssv15137349 | Submitted genomic | NC_000017.10:g.(?_ 47438517)_(4834680 1_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 47,438,517 | 48,346,801 |
| nssv15137349 | Submitted genomic | NC_000017.9:g.(?_4 4793516)_(45701800 _?)del | NCBI36 (hg18) | NC_000017.9 | Chr17 | 44,793,516 | 45,701,800 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15137349 | GRCh37: NC_000017.10:g.(?_47438517)_(48346801_?)del, GRCh38: NC_000017.11:g.(?_49361155)_(50269440_?)del, NCBI36: NC_000017.9:g.(?_44793516)_(45701800_?)del | copy number loss | not provided | See cases | Pathogenic | ClinVar | RCV000139901.4, VCV000151158.2 | 1 |