nsv113
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:26,865
- Publication(s):Tuzun et al. 2005
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 210 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv113 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 198,503,483 | 198,518,859 |
| nsv113 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315907.2 | Chr1|NW_00 3315907.2 | 133,401 | 160,265 |
| nsv113 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 198,472,613 | 198,487,989 |
| nsv113 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315907.1 | Chr1|NW_00 3315907.1 | 133,401 | 160,265 |
| nsv113 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 195,204,270 | 195,219,646 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv113 | insertion | SAMN00000376 | Sequencing | Paired-end mapping | 297 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv113 | Remapped | Pass | NW_003315907.2:g.( 133401_?)_(?_16026 5)ins11490 | GRCh38.p12 | Second Pass | NW_003315907.2 | Chr1|NW_00 3315907.2 | 133,401 | 160,265 |
| nssv113 | Remapped | Perfect | NC_000001.11:g.(19 8503483_?)_(?_1985 18859)ins11490 | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 198,503,483 | 198,518,859 |
| nssv113 | Remapped | Pass | NW_003315907.1:g.( 133401_?)_(?_16026 5)ins11490 | GRCh37.p13 | Second Pass | NW_003315907.1 | Chr1|NW_00 3315907.1 | 133,401 | 160,265 |
| nssv113 | Remapped | Perfect | NC_000001.10:g.(19 8472613_?)_(?_1984 87989)ins11490 | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 198,472,613 | 198,487,989 |
| nssv113 | Submitted genomic | NC_000001.8:g.(195 204270_?)_(?_19521 9646)ins11490 | NCBI35 (hg17) | NC_000001.8 | Chr1 | 195,204,270 | 195,219,646 |