nsv3912593
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:181,198,986
- Description:NCBI36/hg18 5p15.33-q35.3(chr5:368029-627981)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: 470608 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 470248 SVs from 152 studies. See in: genome view
Overlapping variant regions from other studies: 120002 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3912593 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 279,274 | 279,274 | 181,478,259 | 181,478,259 |
| nsv3912593 | Remapped | Good | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 279,389 | 279,389 | 180,905,260 | 180,905,260 |
| nsv3912593 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 332,389 | 368,029 | 627,981 | 180,837,866 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15126236 | copy number gain | Multiple | Multiple | See cases | Uncertain significance | ClinVar | RCV000449896.2, VCV000399265.2 | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv15126236 | Remapped | Good | NC_000005.10:g.(27 9274_279274)_(1814 78259_181478259)du p | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 279,274 | 279,274 | 181,478,259 | 181,478,259 |
| nssv15126236 | Remapped | Good | NC_000005.9:g.(279 389_279389)_(18090 5260_180905260)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 279,389 | 279,389 | 180,905,260 | 180,905,260 |
| nssv15126236 | Submitted genomic | NC_000005.8:g.(332 389_368029)_(62798 1_180837866)dup | NCBI36 (hg18) | NC_000005.8 | Chr5 | 332,389 | 368,029 | 627,981 | 180,837,866 |
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 |
|---|---|---|---|---|---|---|---|---|
| nssv15126236 | NCBI36: NC_000005.8:g.(332389_368029)_(627981_180837866)dup | copy number gain | not provided | See cases | Uncertain significance | ClinVar | RCV000449896.2, VCV000399265.2 | 3 |