nsv264
- 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:31,241
- 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: 1266 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 122 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 1266 SVs from 80 studies. See in: genome view
Overlapping variant regions from other studies: 45 SVs from 8 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv264 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 186,954,516 | 186,985,756 |
| nsv264 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187542.1 | Chr4|NT_18 7542.1 | 34,149 | 57,607 |
| nsv264 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 187,875,670 | 187,906,910 |
| nsv264 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000004.9 | Chr4 | 188,250,819 | 188,282,059 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv264 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv264 | Remapped | Pass | NT_187542.1:g.(341 49_?)_(?_57607)ins 8751 | GRCh38.p12 | Second Pass | NT_187542.1 | Chr4|NT_18 7542.1 | 34,149 | 57,607 |
| nssv264 | Remapped | Perfect | NC_000004.12:g.(18 6954516_?)_(?_1869 85756)ins8751 | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 186,954,516 | 186,985,756 |
| nssv264 | Remapped | Perfect | NC_000004.11:g.(18 7875670_?)_(?_1879 06910)ins8751 | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 187,875,670 | 187,906,910 |
| nssv264 | Submitted genomic | NC_000004.9:g.(188 250819_?)_(?_18828 2059)ins8751 | NCBI35 (hg17) | NC_000004.9 | Chr4 | 188,250,819 | 188,282,059 |