nsv436572
- 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:Not tested
- Clinical Assertions: No
- Region Size:18,485
- 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: 560 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 756 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 429 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 527 SVs from 28 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 |
---|---|---|---|---|---|---|---|---|---|
nsv436572 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 484,255 | 502,739 |
nsv436572 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000008.10 | Chr8 | 2,249,045 | 2,267,529 |
nsv436572 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 283,656 | 302,140 |
nsv436572 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000008.9 | Chr8 | 2,236,452 | 2,254,936 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv466429 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv466429 | Remapped | Perfect | NT_187576.1:g.(484 255_?)_(?_502739)d el | GRCh38.p12 | First Pass | NT_187576.1 | Chr8|NT_18 7576.1 | 484,255 | 502,739 |
nssv466429 | Remapped | Perfect | NW_003571042.1:g.( 283656_?)_(?_30214 0)del | GRCh37.p13 | First Pass | NW_003571042.1 | Chr8|NW_00 3571042.1 | 283,656 | 302,140 |
nssv466429 | Remapped | Perfect | NC_000008.10:g.(22 49045_?)_(?_226752 9)del | GRCh37.p13 | Second Pass | NC_000008.10 | Chr8 | 2,249,045 | 2,267,529 |
nssv466429 | Submitted genomic | NC_000008.9:g.(223 6452_?)_(?_2254936 )del | NCBI36 (hg18) | NC_000008.9 | Chr8 | 2,236,452 | 2,254,936 |