nsv4743379
- 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:35,501,043
- 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: 5304 SVs from 109 studies. See in: genome view
Overlapping variant regions from other studies: 80832 SVs from 148 studies. See in: genome view
Overlapping variant regions from other studies: 13748 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 13743 SVs from 115 studies. See in: genome view
Overlapping variant regions from other studies: 80026 SVs from 148 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4743379 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000001.11 | Chr1 | 125,085,511 | 144,884,066 |
| nsv4743379 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 88,181,571 | 123,682,613 |
| nsv4743379 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000009.12 | Chr9 | 40,649,751 | 63,450,622 |
| nsv4743379 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000009.12 | Chr9 | 40,649,907 | 63,450,751 |
| nsv4743379 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 88,481,090 | 124,440,189 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16293913 | deletion | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16293913 | Remapped | Pass | NC_000001.11:g.125 085511_144884066de lNC_000009.12:g.40 649907_63450751del NC_000002.12:g.881 81571_123682613del NC_000009.12:g.406 49751_63450622del | GRCh38.p12 | Second Pass | NC_000001.11 | Chr1 | 125,085,511 | 144,884,066 |
| nssv16293913 | Remapped | Good | NC_000001.11:g.125 085511_144884066de lNC_000009.12:g.40 649907_63450751del NC_000002.12:g.881 81571_123682613del NC_000009.12:g.406 49751_63450622del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 88,181,571 | 123,682,613 |
| nssv16293913 | Remapped | Pass | NC_000001.11:g.125 085511_144884066de lNC_000009.12:g.40 649907_63450751del NC_000002.12:g.881 81571_123682613del NC_000009.12:g.406 49751_63450622del | GRCh38.p12 | Second Pass | NC_000009.12 | Chr9 | 40,649,751 | 63,450,622 |
| nssv16293913 | Remapped | Pass | NC_000001.11:g.125 085511_144884066de lNC_000009.12:g.40 649907_63450751del NC_000002.12:g.881 81571_123682613del NC_000009.12:g.406 49751_63450622del | GRCh38.p12 | First Pass | NC_000009.12 | Chr9 | 40,649,907 | 63,450,751 |
| nssv16293913 | Submitted genomic | NC_000002.11:g.884 81090_124440189del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 88,481,090 | 124,440,189 |