nsv3235949
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:sequence alteration
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:71
- Description:Insertion variant involving MER satellite DNA
- Publication(s):Chaisson et al. 2019
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: 113 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 113 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3235949 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 100,667,693 | 100,667,763 | ||
| nsv3235949 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 103,429,975 | 103,430,045 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14404171 | sequence alteration | SAMN00001696 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 45,591 |
| nssv14429505 | sequence alteration | HG00514 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 39,861 |
| nssv14467570 | sequence alteration | SAMN00006581 | Optical mapping, Sequencing | Optical mapping, Sequence alignment, de novo and local sequence assembly | 41,185 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv14404171 | Submitted genomic | GRCh38 (hg38) | NC_000009.12 | Chr9 | 100,667,693 | 100,667,763 | ||
| nssv14429505 | Submitted genomic | GRCh38 (hg38) | NC_000009.12 | Chr9 | 100,667,693 | 100,667,763 | ||
| nssv14467570 | Submitted genomic | GRCh38 (hg38) | NC_000009.12 | Chr9 | 100,667,693 | 100,667,763 | ||
| nssv14404171 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 103,429,975 | 103,430,045 |
| nssv14429505 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 103,429,975 | 103,430,045 |
| nssv14467570 | Remapped | Perfect | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 103,429,975 | 103,430,045 |