nsv7142745
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
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: 151 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 151 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7142745 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,584,674 | 1,584,674 |
| nsv7142745 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 61,211 | 61,211 |
| nsv7142745 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 66,911 | 66,911 |
| nsv7142745 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000011.9 | Chr11 | 1,605,904 | 1,605,904 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18835474 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18835474 | Remapped | Perfect | NT_187657.1:g.6121 1_61212ins60 | GRCh38.p12 | Second Pass | NT_187657.1 | Chr11|NT_1 87657.1 | 61,211 | 61,211 |
| nssv18835474 | Remapped | Perfect | NT_187584.1:g.6691 1_66912ins60 | GRCh38.p12 | Second Pass | NT_187584.1 | Chr11|NT_1 87584.1 | 66,911 | 66,911 |
| nssv18835474 | Remapped | Perfect | NC_000011.10:g.158 4674_1584675ins60 | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,584,674 | 1,584,674 |
| nssv18835474 | Submitted genomic | NC_000011.9:g.1605 904_1605905ins60 | GRCh37.p13 | NC_000011.9 | Chr11 | 1,605,904 | 1,605,904 |
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) |
|---|---|---|---|
| nssv18835474 | 0.5 | 1 | 2 |