nsv7140902
- 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:159
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: 472 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 85 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 472 SVs from 51 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7140902 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 79,014,445 | 79,014,603 |
| nsv7140902 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,560 | 79,718 |
| nsv7140902 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,561 | 79,719 |
| nsv7140902 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000018.9 | Chr18 | 76,774,445 | 76,774,603 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18834703 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18834703 | Remapped | Perfect | NT_187666.1:g.7956 0_79718del | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,560 | 79,718 |
| nssv18834703 | Remapped | Perfect | NW_003315961.1:g.7 9561_79719del | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,561 | 79,719 |
| nssv18834703 | Remapped | Perfect | NC_000018.10:g.790 14445_79014603del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,014,445 | 79,014,603 |
| nssv18834703 | Submitted genomic | NC_000018.9:g.7677 4445_76774603del | GRCh37.p13 | NC_000018.9 | Chr18 | 76,774,445 | 76,774,603 |
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) |
|---|---|---|---|
| nssv18834703 | 0.5 | 1 | 2 |