nsv7139811
- 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:133
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: 1071 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 622 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 622 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 1071 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7139811 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,003,458 | 242,003,590 |
| nsv7139811 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 42,153 | 42,285 |
| nsv7139811 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 42,153 | 42,285 |
| nsv7139811 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000002.11 | Chr2 | 242,945,609 | 242,945,741 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18832535 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18832535 | Remapped | Perfect | NT_187523.1:g.4215 3_42285del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 42,153 | 42,285 |
| nssv18832535 | Remapped | Perfect | NT_187647.1:g.4215 3_42285del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 42,153 | 42,285 |
| nssv18832535 | Remapped | Perfect | NC_000002.12:g.242 003458_242003590de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,003,458 | 242,003,590 |
| nssv18832535 | Submitted genomic | NC_000002.11:g.242 945609_242945741de l | GRCh37.p13 | NC_000002.11 | Chr2 | 242,945,609 | 242,945,741 |
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) |
|---|---|---|---|
| nssv18832535 | 0.5 | 3 | 4 |