nsv4716342
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha et al. 2021
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: 730 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 512 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 730 SVs from 54 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4716342 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 1,527,836 | 1,527,837 |
| nsv4716342 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 210,207 | 210,208 |
| nsv4716342 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 1,531,608 | 1,531,609 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16234039 | deletion | M456 | Sequencing | Paired-end mapping | 1 | 4,735 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16234039 | Remapped | Perfect | NT_187529.1:g.2102 07_210208del | GRCh38.p12 | Second Pass | NT_187529.1 | Chr2|NT_18 7529.1 | 210,207 | 210,208 |
| nssv16234039 | Remapped | Perfect | NC_000002.12:g.152 7836_1527837del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 1,527,836 | 1,527,837 |
| nssv16234039 | Submitted genomic | NC_000002.11:g.153 1608_1531609del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 1,531,608 | 1,531,609 |