nsv6290085
- Organism: Homo sapiens
- Study:nstd218 (Wijesiriwardhana et al. 2021)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:25,723
- Publication(s):Wijesiriwardhana et al. 2021
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: 1240 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 787 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 768 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 798 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 774 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 772 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 798 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 758 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 1244 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290085 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 195,692,297 | 195,717,322 |
| nsv6290085 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 78,722 | 103,747 |
| nsv6290085 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_4 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 76,873 | 100,665 |
| nsv6290085 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_5 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 62,794 | 87,819 |
| nsv6290085 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_6 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 76,871 | 101,377 |
| nsv6290085 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_7 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 77,092 | 102,814 |
| nsv6290085 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 62,794 | 87,819 |
| nsv6290085 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 76,875 | 100,103 |
| nsv6290085 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 195,419,168 | 195,444,193 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17955711 | copy number loss | Oligo aCGH | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955711 | Remapped | Perfect | NT_187689.1:g.(?_6 2794)_(87819_?)del | GRCh38.p12 | Second Pass | NT_187689.1 | Chr3|NT_18 7689.1 | 62,794 | 87,819 |
| nssv17955711 | Remapped | Good | NT_187690.1:g.(?_7 6871)_(101377_?)de l | GRCh38.p12 | Second Pass | NT_187690.1 | Chr3|NT_18 7690.1 | 76,871 | 101,377 |
| nssv17955711 | Remapped | Good | NT_187688.1:g.(?_7 6873)_(100665_?)de l | GRCh38.p12 | Second Pass | NT_187688.1 | Chr3|NT_18 7688.1 | 76,873 | 100,665 |
| nssv17955711 | Remapped | Good | NT_187691.1:g.(?_7 7092)_(102814_?)de l | GRCh38.p12 | Second Pass | NT_187691.1 | Chr3|NT_18 7691.1 | 77,092 | 102,814 |
| nssv17955711 | Remapped | Perfect | NT_187678.1:g.(?_7 8722)_(103747_?)de l | GRCh38.p12 | Second Pass | NT_187678.1 | Chr3|NT_18 7678.1 | 78,722 | 103,747 |
| nssv17955711 | Remapped | Perfect | NT_187532.1:g.(?_6 2794)_(87819_?)del | GRCh38.p12 | Second Pass | NT_187532.1 | Chr3|NT_18 7532.1 | 62,794 | 87,819 |
| nssv17955711 | Remapped | Pass | NT_187649.1:g.(?_7 6875)_(100103_?)de l | GRCh38.p12 | Second Pass | NT_187649.1 | Chr3|NT_18 7649.1 | 76,875 | 100,103 |
| nssv17955711 | Remapped | Perfect | NC_000003.12:g.(?_ 195692297)_(195717 322_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 195,692,297 | 195,717,322 |
| nssv17955711 | Submitted genomic | NC_000003.11:g.(?_ 195419168)_(195444 193_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 195,419,168 | 195,444,193 |