nsv499443
- Organism: Homo sapiens
- Study:nstd47 (Kidd et al. 2010b)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:928
- Publication(s):Kidd et al. 2010
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: 413 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 86 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 413 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv499443 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 739,987 | 740,914 |
| nsv499443 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187525.1 | Chr2|NT_18 7525.1 | 15,094 | 16,021 |
| nsv499443 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 739,987 | 740,914 |
| nsv499443 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 729,987 | 730,914 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv585614 | copy number gain | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv585614 | Remapped | Perfect | NT_187525.1:g.1509 4_16021dup | GRCh38.p12 | Second Pass | NT_187525.1 | Chr2|NT_18 7525.1 | 15,094 | 16,021 |
| nssv585614 | Remapped | Perfect | NC_000002.12:g.739 987_740914dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 739,987 | 740,914 |
| nssv585614 | Remapped | Perfect | NC_000002.11:g.739 987_740914dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 739,987 | 740,914 |
| nssv585614 | Submitted genomic | NC_000002.10:g.729 987_730914dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 729,987 | 730,914 |