nsv4714494
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- 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: 348 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 43 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 348 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4714494 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 158,441,132 | 158,441,133 |
| nsv4714494 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 36,042 | 36,043 |
| nsv4714494 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 158,233,824 | 158,233,825 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16237019 | tandem duplication | M456 | Sequencing | Paired-end mapping | 1 | 4,735 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16237019 | Remapped | Perfect | NT_187560.1:g.3604 2_36043dup | GRCh38.p12 | Second Pass | NT_187560.1 | Chr7|NT_18 7560.1 | 36,042 | 36,043 |
| nssv16237019 | Remapped | Perfect | NC_000007.14:g.158 441132_158441133du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 158,441,132 | 158,441,133 |
| nssv16237019 | Submitted genomic | NC_000007.13:g.158 233824_158233825du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 158,233,824 | 158,233,825 |