nsv4685279
- Organism: Homo sapiens
- Study:nstd194 (Lee et al. 2020)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Lee 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: 125 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 125 SVs from 40 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4685279 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 7,844,547 | 7,844,547 |
| nsv4685279 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 65,421 | 65,421 |
| nsv4685279 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 75,541 | 75,541 |
| nsv4685279 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 7,866,094 | 7,866,094 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16216217 | insertion | Sequencing | de novo and local sequence assembly |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16216217 | Remapped | Perfect | NT_187583.1:g.6542 1_65422ins10447 | GRCh38.p12 | Second Pass | NT_187583.1 | Chr11|NT_1 87583.1 | 65,421 | 65,421 |
| nssv16216217 | Remapped | Perfect | NW_011332695.1:g.7 5541_75542ins10447 | GRCh38.p12 | Second Pass | NW_011332695.1 | Chr11|NW_0 11332695.1 | 75,541 | 75,541 |
| nssv16216217 | Remapped | Perfect | NC_000011.10:g.784 4547_7844548ins104 47 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 7,844,547 | 7,844,547 |
| nssv16216217 | Submitted genomic | NC_000011.9:g.7866 094_7866095ins1044 7 | GRCh37 (hg19) | NC_000011.9 | Chr11 | 7,866,094 | 7,866,094 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) |
|---|---|
| nssv16216217 | 0.037 |