nsv820191
- Organism: Homo sapiens
- Study:nstd43 (Kim et al. 2009)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,334
- Publication(s):Kim et al. 2009
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: 489 SVs from 69 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 234 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 208 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv820191 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 43,334 | 82,813 |
| nsv820191 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571049.1 | Chr12|NW_0 03571049.1 | 33,495 | 76,828 |
| nsv820191 | Remapped | Pass | GRCh37.p13 | PATCHES | First Pass | NW_003571048.1 | Chr12|NW_0 03571048.1 | 35,740 | 72,813 |
| nsv820191 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000012.10 | Chr12 | 1 | 62,240 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418753 | copy number loss | SAMN00002681 | Oligo aCGH | Probe signal intensity | 1,333 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418753 | Remapped | Pass | NW_003571049.1:g.( ?_33495)_(76828_?) del | GRCh38.p12 | Second Pass | NW_003571049.1 | Chr12|NW_0 03571049.1 | 33,495 | 76,828 |
| nssv1418753 | Remapped | Pass | NC_000012.12:g.(?_ 43334)_(82813_?)de l | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 43,334 | 82,813 |
| nssv1418753 | Remapped | Pass | NW_003571048.1:g.( ?_35740)_(72813_?) del | GRCh37.p13 | First Pass | NW_003571048.1 | Chr12|NW_0 03571048.1 | 35,740 | 72,813 |
| nssv1418753 | Submitted genomic | NC_000012.10:g.(?_ 1)_(62240_?)del | NCBI36 (hg18) | NC_000012.10 | Chr12 | 1 | 62,240 |