nsv7137360
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:56
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: 149 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 23 SVs from 14 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 149 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv7137360 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 964,811 | 964,866 |
| nsv7137360 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 27,667 | 27,722 |
| nsv7137360 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 27,554 | 27,609 |
| nsv7137360 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000011.9 | Chr11 | 964,811 | 964,866 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18831866 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18831866 | Remapped | Perfect | NT_187681.1:g.2766 7_27722del | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 27,667 | 27,722 |
| nssv18831866 | Remapped | Perfect | NT_187656.1:g.2755 4_27609del | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | 27,554 | 27,609 |
| nssv18831866 | Remapped | Perfect | NC_000011.10:g.964 811_964866del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 964,811 | 964,866 |
| nssv18831866 | Submitted genomic | NC_000011.9:g.9648 11_964866del | GRCh37.p13 | NC_000011.9 | Chr11 | 964,811 | 964,866 |
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) |
|---|---|---|---|
| nssv18831866 | 0.5 | 1 | 2 |