nsv4712517
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- 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: 383 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 242 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 385 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 53 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv4712517 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 152,387,202 | 152,387,202 | - |
| nsv4712517 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,424,234 | 10,424,234 | - |
| nsv4712517 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 102,818 | 102,818 | - |
| nsv4712517 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 152,084,287 | 152,084,287 | - | ||
| nsv4712517 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 11,088,223 | 11,088,223 | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16244777 | interchromosomal translocation | B381 | Sequencing | Paired-end mapping | 1 | 5,743 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16244777 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 152,387,202 | 152,387,202 | - |
| nssv16244777 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 102,818 | 102,818 | - |
| nssv16244777 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,424,234 | 10,424,234 | - |
| nssv16244777 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 152,084,287 | 152,084,287 | - | ||
| nssv16244777 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 11,088,223 | 11,088,223 | - |