nsv2043575
- 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:24
- Description:MOTIF=[TTTC],NS=[301],REF=[6.0],RL=[24],RPA=[5
.0,5.75],RU=[TTTC],QUAL=[172271] - 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: 138 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 studies. See in: genome view
Overlapping variant regions from other studies: 138 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv2043575 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 148,994,687 | 148,994,710 |
| nsv2043575 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003571033.2 | Chr2|NW_00 3571033.2 | 66,699 | 66,722 |
| nsv2043575 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 149,851,201 | 149,851,224 |
Variant Call Information
| Variant Call ID | Type | Repeat Motif | Method | Analysis |
|---|---|---|---|---|
| nssv10969842 | short tandem repeat | (TTTC) 5 | Sequencing | Genotyping |
| nssv10969843 | short tandem repeat | (TTTC) 5.75 | Sequencing | Genotyping |
| nssv10969844 | short tandem repeat | (TTTC) 6 (ref) | Sequencing | Genotyping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv10969842 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003571033.2 | Chr2|NW_00 3571033.2 | 66,699 | 66,722 |
| nssv10969843 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003571033.2 | Chr2|NW_00 3571033.2 | 66,699 | 66,722 |
| nssv10969844 | Remapped | Perfect | GRCh38.p12 | Second Pass | NW_003571033.2 | Chr2|NW_00 3571033.2 | 66,699 | 66,722 |
| nssv10969842 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,994,687 | 148,994,710 |
| nssv10969843 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,994,687 | 148,994,710 |
| nssv10969844 | Remapped | Perfect | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 148,994,687 | 148,994,710 |
| nssv10969842 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 149,851,201 | 149,851,224 | ||
| nssv10969843 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 149,851,201 | 149,851,224 | ||
| nssv10969844 | Submitted genomic | GRCh37 (hg19) | NC_000002.11 | Chr2 | 149,851,201 | 149,851,224 |