nsv6290082
- 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:30,139
- 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: 1156 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 691 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 691 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 1156 SVs from 84 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290082 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,056,163 | 242,086,301 |
| nsv6290082 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 100,233 | 130,371 |
| nsv6290082 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 99,873 | 130,011 |
| nsv6290082 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,998,314 | 243,028,452 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17955695 | copy number gain | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955695 | Remapped | Perfect | NT_187647.1:g.(?_9 9873)_(130011_?)du p | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 99,873 | 130,011 |
| nssv17955695 | Remapped | Perfect | NT_187523.1:g.(?_1 00233)_(130371_?)d up | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 100,233 | 130,371 |
| nssv17955695 | Remapped | Perfect | NC_000002.12:g.(?_ 242056163)_(242086 301_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,056,163 | 242,086,301 |
| nssv17955695 | Submitted genomic | NC_000002.11:g.(?_ 242998314)_(243028 452_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,998,314 | 243,028,452 |