nsv436883
- Organism: Homo sapiens
- Study:nstd16 (Korbel et al. 2007)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:14,597
- Description:Unmated-Insertion
- Publication(s):Korbel et al. 2007
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: 385 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 385 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 146 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv436883 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,480,066 | 21,494,662 |
| nsv436883 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 21,480,175 | 21,494,771 |
| nsv436883 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000005.8 | Chr5 | 21,515,932 | 21,530,528 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466204 | insertion | SAMN00001583 | Sequencing | Paired-end mapping | 822 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv466204 | Remapped | Perfect | NC_000005.10:g.(21 480066_?)_(?_21494 662)ins? | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,480,066 | 21,494,662 |
| nssv466204 | Remapped | Perfect | NC_000005.9:g.(214 80175_?)_(?_214947 71)ins? | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,480,175 | 21,494,771 |
| nssv466204 | Submitted genomic | NC_000005.8:g.(215 15932_?)_(?_215305 28)ins(0_?) | NCBI36 (hg18) | NC_000005.8 | Chr5 | 21,515,932 | 21,530,528 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466204 | 4 | SAMN00001583 | PCR | Manual observation | Pass |