nsv4386486
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:177,309
- Publication(s):Zarrei et al. 2019
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: 827 SVs from 76 studies. See in: genome view
Overlapping variant regions from other studies: 485 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 839 SVs from 76 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4386486 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 235,375,705 | 235,549,222 |
| nsv4386486 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 15,506 | 192,814 |
| nsv4386486 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 235,539,020 | 235,712,522 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15615297 | copy number gain | 1-0767-003 | SNP array | Genotyping | 20 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15615297 | Remapped | Good | NW_014040927.1:g.( ?_15506)_(192814_? )dup | GRCh38.p12 | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 15,506 | 192,814 |
| nssv15615297 | Remapped | Good | NC_000001.11:g.(?_ 235375705)_(235549 222_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,375,705 | 235,549,222 |
| nssv15615297 | Submitted genomic | NC_000001.10:g.(?_ 235539020)_(235712 522_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 235,539,020 | 235,712,522 |