nsv499566
- 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:8,397
- 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: 808 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 132 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 133 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 808 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 381 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv499566 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 79,014,310 | 79,017,273 |
| nsv499566 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,425 | 86,260 |
| nsv499566 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,426 | 87,822 |
| nsv499566 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000018.9 | Chr18 | 76,774,310 | 76,777,273 |
| nsv499566 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000018.8 | Chr18 | 74,875,298 | 74,878,261 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv585612 | copy number gain | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv585612 | Remapped | Pass | NT_187666.1:g.7942 5_86260dup | GRCh38.p12 | Second Pass | NT_187666.1 | Chr18|NT_1 87666.1 | 79,425 | 86,260 |
| nssv585612 | Remapped | Pass | NW_003315961.1:g.7 9426_87822dup | GRCh38.p12 | Second Pass | NW_003315961.1 | Chr18|NW_0 03315961.1 | 79,426 | 87,822 |
| nssv585612 | Remapped | Perfect | NC_000018.10:g.790 14310_79017273dup | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 79,014,310 | 79,017,273 |
| nssv585612 | Remapped | Perfect | NC_000018.9:g.7677 4310_76777273dup | GRCh37.p13 | First Pass | NC_000018.9 | Chr18 | 76,774,310 | 76,777,273 |
| nssv585612 | Submitted genomic | NC_000018.8:g.7487 5298_74878261dup | NCBI36 (hg18) | NC_000018.8 | Chr18 | 74,875,298 | 74,878,261 |