nsv4777380
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:300
- 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: 137 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 2 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 137 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4777380 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 149,022,642 | 149,022,941 |
| nsv4777380 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571033.2 | Chr2|NW_00 3571033.2 | 94,654 | 94,953 |
| nsv4777380 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 149,879,156 | 149,879,455 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16302232 | alu deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16302232 | Remapped | Perfect | NW_003571033.2:g.9 4654_94953del | GRCh38.p12 | Second Pass | NW_003571033.2 | Chr2|NW_00 3571033.2 | 94,654 | 94,953 |
| nssv16302232 | Remapped | Perfect | NC_000002.12:g.149 022642_149022941de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 149,022,642 | 149,022,941 |
| nssv16302232 | Submitted genomic | NC_000002.11:g.149 879156_149879455de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 149,879,156 | 149,879,455 |
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) |
|---|---|---|---|
| nssv16302232 | <0.001 | 1 | 16834 |