nsv1076834
- Organism: Homo sapiens
- Study:nstd99 (Thareja et al. 2015)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:115
- Publication(s):Thareja et al. 2015
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: 1148 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 634 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 634 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 1148 SVs from 79 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1076834 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 241,987,296 | 241,987,410 |
| nsv1076834 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 25,991 | 26,105 |
| nsv1076834 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 25,991 | 26,105 |
| nsv1076834 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,929,447 | 242,929,561 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3768984 | insertion | KWP1 | Sequencing | Read depth and paired-end mapping | 11,116 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3768984 | Remapped | Perfect | NT_187523.1:g.(259 91_?)_(?_26105)ins ? | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 25,991 | 26,105 |
| nssv3768984 | Remapped | Perfect | NT_187647.1:g.(259 91_?)_(?_26105)ins ? | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 25,991 | 26,105 |
| nssv3768984 | Remapped | Perfect | NC_000002.12:g.(24 1987296_?)_(?_2419 87410)ins? | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 241,987,296 | 241,987,410 |
| nssv3768984 | Submitted genomic | NC_000002.11:g.(24 2929447_?)_(?_2429 29561)ins(0_?) | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,929,447 | 242,929,561 |