nsv820289
- 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:28,540
- 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: 1506 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1289 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 1424 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1017 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 610 SVs from 30 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv820289 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 142,065,696 | 142,094,235 |
| nsv820289 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,576 | 56,115 |
| nsv820289 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 141,765,496 | 141,794,035 |
| nsv820289 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 207,647 | 236,186 |
| nsv820289 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000007.12 | Chr7 | 141,411,965 | 141,440,504 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1418713 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv1418713 | Remapped | Perfect | NT_187562.1:g.(?_2 7576)_(56115_?)del | GRCh38.p12 | Second Pass | NT_187562.1 | Chr7|NT_18 7562.1 | 27,576 | 56,115 |
| nssv1418713 | Remapped | Perfect | NC_000007.14:g.(?_ 142065696)_(142094 235_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 142,065,696 | 142,094,235 |
| nssv1418713 | Remapped | Perfect | NW_003571040.1:g.( ?_207647)_(236186_ ?)del | GRCh37.p13 | First Pass | NW_003571040.1 | Chr7|NW_00 3571040.1 | 207,647 | 236,186 |
| nssv1418713 | Remapped | Perfect | NC_000007.13:g.(?_ 141765496)_(141794 035_?)del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 141,765,496 | 141,794,035 |
| nssv1418713 | Submitted genomic | NC_000007.12:g.(?_ 141411965)_(141440 504_?)del | NCBI36 (hg18) | NC_000007.12 | Chr7 | 141,411,965 | 141,440,504 |