nsv6290065
- 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:119,648
- 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: 1080 SVs from 91 studies. See in: genome view
Overlapping variant regions from other studies: 867 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1080 SVs from 91 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6290065 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 72,303,172 | 72,413,861 |
| nsv6290065 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,439 | 135,086 |
| nsv6290065 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 72,768,855 | 72,879,544 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17955698 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv17955698 | Remapped | Pass | NW_018654707.1:g.( ?_15439)_(135086_? )dup | GRCh38.p12 | Second Pass | NW_018654707.1 | Chr1|NW_01 8654707.1 | 15,439 | 135,086 |
| nssv17955698 | Remapped | Perfect | NC_000001.11:g.(?_ 72303172)_(7241386 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 72,303,172 | 72,413,861 |
| nssv17955698 | Submitted genomic | NC_000001.10:g.(?_ 72768855)_(7287954 4_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 72,768,855 | 72,879,544 |