nsv5333601
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:translocation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Abel et al. 2020
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: 883 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 997 SVs from 73 studies. See in: genome view
Overlapping variant regions from other studies: 342 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 883 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 997 SVs from 73 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5333601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,362,840 | 22,362,840 | - |
| nsv5333601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 22,389,038 | 22,389,038 | - |
| nsv5333601 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 15,591 | 15,591 | - |
| nsv5333601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,717,200 | 22,717,200 | - | ||
| nsv5333601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 22,743,406 | 22,743,406 | - |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16408282 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16408282 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187629.1 | Chr22|NT_1 87629.1 | 15,591 | 15,591 | - |
| nssv16408282 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,362,840 | 22,362,840 | - |
| nssv16408282 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 22,389,038 | 22,389,038 | - |
| nssv16408282 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,717,200 | 22,717,200 | - | ||
| nssv16408282 | Submitted genomic | GRCh37 (hg19) | NC_000022.10 | Chr22 | 22,743,406 | 22,743,406 | - |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16408282 | 0.001 | 16 | 16832 |