nsv4736020
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,951
- Publication(s):Quan 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: 434 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 434 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4736020 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 739,918 | 741,899 |
| nsv4736020 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187525.1 | Chr2|NT_18 7525.1 | 11,056 | 17,006 |
| nsv4736020 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 739,918 | 741,899 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16262041 | duplication | Sequencing | Split read mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16262041 | Remapped | Pass | NT_187525.1:g.1105 6_17006dup | GRCh38.p12 | Second Pass | NT_187525.1 | Chr2|NT_18 7525.1 | 11,056 | 17,006 |
| nssv16262041 | Remapped | Perfect | NC_000002.12:g.739 918_741899dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 739,918 | 741,899 |
| nssv16262041 | Submitted genomic | NC_000002.11:g.739 918_741899dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 739,918 | 741,899 |