nsv2164247
- Organism: Homo sapiens
- Study:nstd128 (Mallick et al. 2016)
- Variant Type:short tandem repeat
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:17
- Description:MOTIF=[GCGG],NS=[282],REF=[4.25],RL=[17],RU=[G
CGG],RPA=[5.0,5.25,6.25],QUAL=[96687.4] - Publication(s):Mallick et al. 2016
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: 80 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 80 SVs from 19 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2164247 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 44,862,149 | 44,862,165 |
| nsv2164247 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646197.1 | Chr3|NW_00 9646197.1 | 387,499 | 387,515 |
| nsv2164247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 44,903,641 | 44,903,657 |
Variant Call Information
| Variant Call ID | Type | Repeat Motif | Method | Analysis |
|---|---|---|---|---|
| nssv11158490 | short tandem repeat | (GCGG) 6.25 | Sequencing | Genotyping |
| nssv11158491 | short tandem repeat | (GCGG) 5 | Sequencing | Genotyping |
| nssv11158492 | short tandem repeat | (GCGG) 4.25 (ref) | Sequencing | Genotyping |
| nssv11311983 | short tandem repeat | (GCGG) 5.25 | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv11158490 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_009646197.1 | Chr3|NW_00 9646197.1 | 387,499 | 387,515 |
| nssv11158491 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_009646197.1 | Chr3|NW_00 9646197.1 | 387,499 | 387,515 |
| nssv11158492 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_009646197.1 | Chr3|NW_00 9646197.1 | 387,499 | 387,515 |
| nssv11311983 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_009646197.1 | Chr3|NW_00 9646197.1 | 387,499 | 387,515 |
| nssv11158490 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 44,862,149 | 44,862,165 |
| nssv11158491 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 44,862,149 | 44,862,165 |
| nssv11158492 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 44,862,149 | 44,862,165 |
| nssv11311983 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 44,862,149 | 44,862,165 |
| nssv11158490 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 44,903,641 | 44,903,657 | ||
| nssv11158491 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 44,903,641 | 44,903,657 | ||
| nssv11158492 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 44,903,641 | 44,903,657 | ||
| nssv11311983 | Submitted genomic | GRCh37 (hg19) | NC_000003.11 | Chr3 | 44,903,641 | 44,903,657 |