nsv7144554
- 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:52
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: 103 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 316 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7144554 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 264,299 | 264,350 |
| nsv7144554 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000008.10 | Chr8 | 2,029,089 | 2,029,140 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18840519 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18840519 | Remapped | Perfect | NT_187576.1:g.2642 99_264350del | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 264,299 | 264,350 |
| nssv18840519 | Submitted genomic | NC_000008.10:g.202 9089_2029140del | GRCh37.p13 | NC_000008.10 | Chr8 | 2,029,089 | 2,029,140 |
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) |
|---|---|---|---|
| nssv18840519 | 0.5 | 1 | 2 |