nsv499357
- 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:5,706
- 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: 397 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 153 SVs from 16 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv499357 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 220,090 | 222,105 |
| nsv499357 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 167,460 | 173,165 |
| nsv499357 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070872.2 | Chr17|NW_0 04070872.2 | 160,088 | 162,103 |
| nsv499357 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000017.9 | Chr17 | 69,881 | 71,896 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv585606 | copy number gain | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv585606 | Remapped | Pass | NW_003315952.3:g.1 67460_173165dup | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 167,460 | 173,165 |
| nssv585606 | Remapped | Perfect | NC_000017.11:g.220 090_222105dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 220,090 | 222,105 |
| nssv585606 | Remapped | Perfect | NW_004070872.2:g.1 60088_162103dup | GRCh37.p13 | First Pass | NW_004070872.2 | Chr17|NW_0 04070872.2 | 160,088 | 162,103 |
| nssv585606 | Submitted genomic | NC_000017.9:g.6988 1_71896dup | NCBI36 (hg18) | NC_000017.9 | Chr17 | 69,881 | 71,896 |