nsv5345446
- 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: 182 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 182 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 42 SVs from 15 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 32 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv5345446 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,174,842 | 11,174,842 | + |
| nsv5345446 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 11,174,896 | 11,174,896 | + |
| nsv5345446 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 369,783 | 369,783 | + |
| nsv5345446 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 369,837 | 369,837 | + |
| nsv5345446 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 405,496 | 405,496 | + |
| nsv5345446 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 405,550 | 405,550 | + |
| nsv5345446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,327,441 | 11,327,441 | + | ||
| nsv5345446 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 11,327,495 | 11,327,495 | + |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16398181 | intrachromosomal translocation | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop | strand |
|---|---|---|---|---|---|---|---|---|---|
| nssv16398181 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 369,783 | 369,783 | + |
| nssv16398181 | Remapped | Perfect | GRCh38.p12 | Second Pass | NT_187658.1 | Chr12|NT_1 87658.1 | 369,837 | 369,837 | + |
| nssv16398181 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 405,496 | 405,496 | + |
| nssv16398181 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003571050.1 | Chr12|NW_0 03571050.1 | 405,550 | 405,550 | + |
| nssv16398181 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,174,842 | 11,174,842 | + |
| nssv16398181 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 11,174,896 | 11,174,896 | + |
| nssv16398181 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,327,441 | 11,327,441 | + | ||
| nssv16398181 | Submitted genomic | GRCh37 (hg19) | NC_000012.11 | Chr12 | 11,327,495 | 11,327,495 | + |
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) |
|---|---|---|---|
| nssv16398181 | <0.001 | 1 | 16834 |