nsv2502247
- Organism: Homo sapiens
- Study:nstd128 (Mallick et al. 2016)
- Variant Type:short tandem repeat
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:80
- Description:MOTIF=[AAG],NS=[300],REF=[26.6667],RL=[80],RU=
[AAG],RPA=[21.6667,22.6667],QUAL=[102537] - 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: 98 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 98 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2502247 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 78,336,740 | 78,336,819 |
| nsv2502247 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 77,966,057 | 77,966,136 |
Variant Call Information
| Variant Call ID | Type | Repeat Motif | Method | Analysis |
|---|---|---|---|---|
| nssv12407377 | short tandem repeat | (AAG) 22.67 | Sequencing | Genotyping |
| nssv12407378 | short tandem repeat | (AAG) 21.67 | Sequencing | Genotyping |
| nssv12433017 | short tandem repeat | (AAG) 26.67 (ref) | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv12407377 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 78,336,740 | 78,336,819 |
| nssv12407378 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 78,336,740 | 78,336,819 |
| nssv12433017 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 78,336,740 | 78,336,819 |
| nssv12407377 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 77,966,057 | 77,966,136 | ||
| nssv12407378 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 77,966,057 | 77,966,136 | ||
| nssv12433017 | Submitted genomic | GRCh37 (hg19) | NC_000007.13 | Chr7 | 77,966,057 | 77,966,136 |