nsv4749224
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:102,689
- Publication(s):Quan 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: 1316 SVs from 93 studies. See in: genome view
Overlapping variant regions from other studies: 271 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 332 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 1317 SVs from 93 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4749224 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,055,075 | 11,125,815 |
| nsv4749224 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 254,071 | 320,836 |
| nsv4749224 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 253,781 | 356,469 |
| nsv4749224 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,207,674 | 11,278,414 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16276698 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16276698 | Remapped | Pass | NT_187658.1:g.2540 71_320836del | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 254,071 | 320,836 |
| nssv16276698 | Remapped | Pass | NW_003571050.1:g.2 53781_356469del | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 253,781 | 356,469 |
| nssv16276698 | Remapped | Perfect | NC_000012.12:g.110 55075_11125815del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,055,075 | 11,125,815 |
| nssv16276698 | Submitted genomic | NC_000012.11:g.112 07674_11278414del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,207,674 | 11,278,414 |