nsv930459
- Organism: Homo sapiens
- Study:nstd76 (Watson et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:46,128
- Publication(s):Watson et al. 2013
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2755 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1992 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 2477 SVs from 94 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv930459 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,330,002 | 106,330,002 | 106,355,288 | 106,355,288 |
| nsv930459 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 797,771 | 797,771 | 843,898 | - |
| nsv930459 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,786,254 | 106,786,503 | 106,810,964 | 106,811,213 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv1607656 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1607656 | Remapped | Pass | NT_187600.1:g.(797 771_797771)_(84389 8_?)del | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 797,771 | 797,771 | 843,898 | - |
| nssv1607656 | Remapped | Good | NC_000014.9:g.(106 330002_106330002)_ (106355288_1063552 88)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,330,002 | 106,330,002 | 106,355,288 | 106,355,288 |
| nssv1607656 | Submitted genomic | NC_000014.8:g.(106 786254_106786503)_ (106810964_1068112 13)del24900 | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,786,254 | 106,786,503 | 106,810,964 | 106,811,213 |