nsv114
- Organism: Homo sapiens
- Study:nstd1 (Tuzun et al. 2005)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:17,509
- Publication(s):Tuzun et al. 2005
- TRACE: TEMPLATE_ID='G248P800672H11'
- TRACE: TEMPLATE_ID='G248P800770D7'
- TRACE: TEMPLATE_ID='G248P80120E1'
- TRACE: TEMPLATE_ID='G248P8184B1'
- TRACE: TEMPLATE_ID='G248P85387H9'
- TRACE: TEMPLATE_ID='G248P85606D2'
- TRACE: TEMPLATE_ID='G248P86310H8'
- TRACE: TEMPLATE_ID='G248P87215G8'
- TRACE: TEMPLATE_ID='G248P88864D4'
- Overlapping Genes
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: 136 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 33 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 136 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 14 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 5 SVs from 4 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv114 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 66,098,753 | 66,104,116 |
| nsv114 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315944.2 | Chr15|NW_0 03315944.2 | 190,561 | 208,069 |
| nsv114 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 66,391,091 | 66,396,454 |
| nsv114 | Remapped | Pass | GRCh37.p13 | PATCHES | Second Pass | NW_003315944.1 | Chr15|NW_0 03315944.1 | 190,561 | 208,069 |
| nsv114 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000015.8 | Chr15 | 64,178,145 | 64,183,508 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv114 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv114 | Remapped | Pass | NW_003315944.2:g.( 190561_?)_(?_20806 9)ins11155 | GRCh38.p12 | Second Pass | NW_003315944.2 | Chr15|NW_0 03315944.2 | 190,561 | 208,069 |
| nssv114 | Remapped | Perfect | NC_000015.10:g.(66 098753_?)_(?_66104 116)ins11155 | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 66,098,753 | 66,104,116 |
| nssv114 | Remapped | Pass | NW_003315944.1:g.( 190561_?)_(?_20806 9)ins11155 | GRCh37.p13 | Second Pass | NW_003315944.1 | Chr15|NW_0 03315944.1 | 190,561 | 208,069 |
| nssv114 | Remapped | Perfect | NC_000015.9:g.(663 91091_?)_(?_663964 54)ins11155 | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 66,391,091 | 66,396,454 |
| nssv114 | Submitted genomic | NC_000015.8:g.(641 78145_?)_(?_641835 08)ins11155 | NCBI35 (hg17) | NC_000015.8 | Chr15 | 64,178,145 | 64,183,508 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv114 | 3 | SAMN00000376 | PCR | Manual observation | Pass |
| nssv114 | 2 | SAMN00000376 | Sequencing | Sequence alignment | Pass |