nsv870417
- Organism: Homo sapiens
- Study:nstd53 (Tuttelmann et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:174,108
- Publication(s):Tüttelmann et al. 2011
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: 826 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 822 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 253 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv870417 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 103,921,190 | 103,921,190 | 104,095,297 | 104,095,297 |
| nsv870417 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 103,175,773 | 103,179,645 | 103,303,380 | 103,339,981 |
| nsv870417 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 57,606 | 57,606 | 231,713 | 231,713 |
| nsv870417 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000023.9 | ChrX | 103,062,429 | 103,066,301 | 103,190,036 | 103,226,637 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1499049 | copy number gain | OAT_25 | Oligo aCGH | Probe signal intensity | 25 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv1499049 | Remapped | Pass | NC_000023.11:g.(10 3921190_103921190) _(104095297_104095 297)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 103,921,190 | 103,921,190 | 104,095,297 | 104,095,297 |
| nssv1499049 | Remapped | Pass | NW_004070885.1:g.( 57606_57606)_(2317 13_231713)dup | GRCh37.p13 | Second Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 57,606 | 57,606 | 231,713 | 231,713 |
| nssv1499049 | Remapped | Perfect | NC_000023.10:g.(10 3175773_103179645) _(103303380_103339 981)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 103,175,773 | 103,179,645 | 103,303,380 | 103,339,981 |
| nssv1499049 | Submitted genomic | NC_000023.9:g.(103 062429_103066301)_ (103190036_1032266 37)dup | NCBI36 (hg18) | NC_000023.9 | ChrX | 103,062,429 | 103,066,301 | 103,190,036 | 103,226,637 |