nsv4870492
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:104,790
- 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: 337 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 337 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4870492 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 59,218,228 (+3) | 59,323,017 (+3) |
| nsv4870492 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 58,514,054 (+3) | 58,618,843 (+3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16413138 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16413138 | Remapped | Perfect | NC_000005.10:g.(?_ 59218231)_(?_59323 020)inv | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 59,218,228 (+3) | 59,323,017 (+3) |
| nssv16413138 | Submitted genomic | NC_000005.9:g.(?_5 8514057)_(?_586188 46)inv | GRCh37 (hg19) | NC_000005.9 | Chr5 | 58,514,054 (+3) | 58,618,843 (+3) |
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) |
|---|---|---|---|
| nssv16413138 | <0.001 | 1 | 16834 |