nsv4716381
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha 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: 140 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 214 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4716381 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 57,432,392 | 57,432,393 |
| nsv4716381 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 57,297,190 | 57,297,191 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16236644 | deletion | M456 | Sequencing | Paired-end mapping | 1 | 4,735 |
| nssv16242023 | deletion | M478 | Sequencing | Paired-end mapping | 1 | 4,557 |
| nssv16248203 | deletion | B381 | Sequencing | Paired-end mapping | 1 | 5,743 |
| nssv16251460 | deletion | B450 | Sequencing | Paired-end mapping | 1 | 4,473 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16236644 | Remapped | Perfect | NC_000006.12:g.574 32392_57432393del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,432,392 | 57,432,393 |
| nssv16242023 | Remapped | Perfect | NC_000006.12:g.574 32392_57432393del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,432,392 | 57,432,393 |
| nssv16248203 | Remapped | Perfect | NC_000006.12:g.574 32392_57432393del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,432,392 | 57,432,393 |
| nssv16251460 | Remapped | Perfect | NC_000006.12:g.574 32392_57432393del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 57,432,392 | 57,432,393 |
| nssv16236644 | Submitted genomic | NC_000006.11:g.572 97190_57297191del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,297,190 | 57,297,191 | ||
| nssv16242023 | Submitted genomic | NC_000006.11:g.572 97190_57297191del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,297,190 | 57,297,191 | ||
| nssv16248203 | Submitted genomic | NC_000006.11:g.572 97190_57297191del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,297,190 | 57,297,191 | ||
| nssv16251460 | Submitted genomic | NC_000006.11:g.572 97190_57297191del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 57,297,190 | 57,297,191 |