nsv4714072
- 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: 457 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 274 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 457 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 261 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv4714072 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 152,261,279 | 152,261,279 | - |
| nsv4714072 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 10,466,695 | 10,466,695 | - |
| nsv4714072 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 145,228 | 145,228 | - |
| nsv4714072 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 151,958,364 | 151,958,364 | - | ||
| nsv4714072 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 11,045,762 | 11,045,762 | - |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16251138 | interchromosomal translocation | B450 | Sequencing | Paired-end mapping | 1 | 4,473 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16251138 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 152,261,279 | 152,261,279 | - |
| nssv16251138 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_011332699.1 | Chr13|NW_0 11332699.1 | 145,228 | 145,228 | - |
| nssv16251138 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 10,466,695 | 10,466,695 | - |
| nssv16251138 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 151,958,364 | 151,958,364 | - | ||
| nssv16251138 | Submitted genomic | GRCh37 (hg19) | NC_000021.8 | Chr21 | 11,045,762 | 11,045,762 | - |