nsv482155
- Organism: Homo sapiens
- Study:nstd39 (Schuster et al. 2010)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:23,883
- Description:MUC6
- Publication(s):Schuster et al. 2010
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: 319 SVs from 70 studies. See in: genome view
Overlapping variant regions from other studies: 115 SVs from 42 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 159 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 374 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 7 SVs from 6 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv482155 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 1,012,824 | - | 1,025,480 | - |
| nsv482155 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_3 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 82,415 | - | 99,873 | - |
| nsv482155 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | - | 87,827 | - | 106,271 |
| nsv482155 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 281 | - | - | 24,163 |
| nsv482155 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 1,012,824 | - | - | 1,036,706 |
| nsv482155 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000011.8 | Chr11 | 1,002,824 | - | - | 1,026,706 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv558516 | copy number gain | KB1 | Sequencing | Read depth | 3 | 187 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv558516 | Remapped | Pass | NT_187681.1:g.(824 15_?)_(99873_?)dup | GRCh38.p12 | Second Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 82,415 | - | 99,873 | - |
| nssv558516 | Remapped | Pass | NT_187656.1:g.(?_8 7827)_(?_106271)du p | GRCh38.p12 | Second Pass | NT_187656.1 | Chr11|NT_1 87656.1 | - | 87,827 | - | 106,271 |
| nssv558516 | Remapped | Perfect | NW_015148966.1:g.( 281_?)_(?_24163)du p | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 281 | - | - | 24,163 |
| nssv558516 | Remapped | Pass | NC_000011.10:g.(10 12824_?)_(1025480_ ?)dup | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 1,012,824 | - | 1,025,480 | - |
| nssv558516 | Remapped | Perfect | NC_000011.9:g.(101 2824_?)_(?_1036706 )dup | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 1,012,824 | - | - | 1,036,706 |
| nssv558516 | Submitted genomic | NC_000011.8:g.(100 2824_?)_(?_1026706 )dup | NCBI35 (hg17) | NC_000011.8 | Chr11 | 1,002,824 | - | - | 1,026,706 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv558516 | 2 | KB1 | Oligo aCGH | Probe signal intensity | Pass |