nsv10172
- Organism: Homo sapiens
- Study:nstd4 (Perry et al. 2008)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI35 (hg17)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:24,213
- Publication(s):Perry et al. 2008
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: 189 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 188 SVs from 25 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 Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv10172 | Remapped | Pass | GRCh38.p12 | Primary Assembly | Second Pass | NC_000002.12 | Chr2 | 131,250,891 | 131,275,103 | - |
| nsv10172 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000002.11 | Chr2 | 132,008,464 | 132,032,624 | - |
| nsv10172 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000002.9 | Chr2 | 131,236,965 | - | 131,270,301 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv11843 | copy number loss | NA18972 | Oligo aCGH | Probe signal intensity | 693 |
| nssv28809 | copy number loss | NA18502 | Oligo aCGH | Probe signal intensity | 703 |
| nssv28105 | copy number loss | NA18980 | Oligo aCGH | Probe signal intensity | 561 |
| nssv29165 | copy number loss | NA12155 | Oligo aCGH | Probe signal intensity | 667 |
| nssv29028 | copy number loss | NA18860 | Oligo aCGH | Probe signal intensity | 768 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv11843 | Remapped | Pass | NC_000002.12:g.(?_ 130666330)_(130678 974_130678974)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | - | 130,666,330 | 130,678,974 | 130,678,974 |
| nssv28809 | Remapped | Good | NC_000002.12:g.(13 1250891_131250891) _(131263691_131263 691)del | GRCh38.p12 | Second Pass | NC_000002.12 | Chr2 | 131,250,891 | 131,250,891 | 131,263,691 | 131,263,691 |
| nssv28105 | Remapped | Pass | NC_000002.12:g.(13 1250891_131250891) _(131275103_?)del | GRCh38.p12 | Second Pass | NC_000002.12 | Chr2 | 131,250,891 | 131,250,891 | 131,275,103 | - |
| nssv29165 | Remapped | Perfect | NC_000002.12:g.(13 1251297_131251297) _(131258743_131258 743)del | GRCh38.p12 | Second Pass | NC_000002.12 | Chr2 | 131,251,297 | 131,251,297 | 131,258,743 | 131,258,743 |
| nssv29028 | Remapped | Good | NC_000002.12:g.(13 1256861_131256861) _(131258743_131258 743)del | GRCh38.p12 | Second Pass | NC_000002.12 | Chr2 | 131,256,861 | 131,256,861 | 131,258,743 | 131,258,743 |
| nssv28809 | Remapped | Good | NC_000002.11:g.(13 2008464_132008464) _(132021264_132021 264)del | GRCh37.p13 | Second Pass | NC_000002.11 | Chr2 | 132,008,464 | 132,008,464 | 132,021,264 | 132,021,264 |
| nssv28105 | Remapped | Pass | NC_000002.11:g.(13 2008464_132008464) _(132032624_?)del | GRCh37.p13 | Second Pass | NC_000002.11 | Chr2 | 132,008,464 | 132,008,464 | 132,032,624 | - |
| nssv29165 | Remapped | Perfect | NC_000002.11:g.(13 2008870_132008870) _(132016316_132016 316)del | GRCh37.p13 | Second Pass | NC_000002.11 | Chr2 | 132,008,870 | 132,008,870 | 132,016,316 | 132,016,316 |
| nssv29028 | Remapped | Good | NC_000002.11:g.(13 2014434_132014434) _(132016316_132016 316)del | GRCh37.p13 | Second Pass | NC_000002.11 | Chr2 | 132,014,434 | 132,014,434 | 132,016,316 | 132,016,316 |
| nssv11843 | Remapped | Pass | NC_000002.11:g.(13 2023146_132023146) _(132032624_?)del | GRCh37.p13 | Second Pass | NC_000002.11 | Chr2 | 132,023,146 | 132,023,146 | 132,032,624 | - |
| nssv28809 | Submitted genomic | NC_000002.9:g.(131 236965_131237373)_ (131249244_1312497 45)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 131,236,965 | 131,237,373 | 131,249,244 | 131,249,745 | ||
| nssv28105 | Submitted genomic | NC_000002.9:g.(131 236965_131237373)_ (131262836_1312677 65)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 131,236,965 | 131,237,373 | 131,262,836 | 131,267,765 | ||
| nssv29165 | Submitted genomic | NC_000002.9:g.(131 237373_131237433)_ (131244420_1312448 19)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 131,237,373 | 131,237,433 | 131,244,420 | 131,244,819 | ||
| nssv29028 | Submitted genomic | NC_000002.9:g.(131 242926_131243468)_ (131244420_1312448 19)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 131,242,926 | 131,243,468 | 131,244,420 | 131,244,819 | ||
| nssv11843 | Submitted genomic | NC_000002.9:g.(131 251627_131253037)_ (131269538_1312703 01)del | NCBI35 (hg17) | NC_000002.9 | Chr2 | 131,251,627 | 131,253,037 | 131,269,538 | 131,270,301 |