nsv436164
- Organism: Homo sapiens
- Study:nstd16 (Korbel et al. 2007)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:17,251
- 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: 252 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 252 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 79 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 | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv436164 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | 24,585,852 | 24,603,102 |
| nsv436164 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 25,159,990 | 25,177,240 |
| nsv436164 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000013.9 | Chr13 | 24,057,990 | 24,075,240 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv466729 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv466729 | Remapped | Perfect | NC_000013.11:g.(24 585852_?)_(?_24603 102)del | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 24,585,852 | 24,603,102 |
| nssv466729 | Remapped | Perfect | NC_000013.10:g.(25 159990_?)_(?_25177 240)del | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 25,159,990 | 25,177,240 |
| nssv466729 | Submitted genomic | NC_000013.9:g.(240 57990_?)_(?_240752 40)del | NCBI36 (hg18) | NC_000013.9 | Chr13 | 24,057,990 | 24,075,240 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv466729 | 4 | SAMN00001583 | PCR | Manual observation | Pass |