nsv1140199
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:116
- Publication(s):Alsmadi et al. 2014
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: 345 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 78 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 345 SVs from 40 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1140199 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 170,474,869 | 170,474,984 |
| nsv1140199 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187553.1 | Chr6|NT_18 7553.1 | 211,430 | 211,545 |
| nsv1140199 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 170,783,957 | 170,784,072 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3978911 | insertion | KWS2 | Sequencing | Read depth and paired-end mapping | 21,718 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3978911 | Remapped | Perfect | NT_187553.1:g.(211 430_?)_(?_211545)i ns? | GRCh38.p12 | Second Pass | NT_187553.1 | Chr6|NT_18 7553.1 | 211,430 | 211,545 |
| nssv3978911 | Remapped | Perfect | NC_000006.12:g.(17 0474869_?)_(?_1704 74984)ins? | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 170,474,869 | 170,474,984 |
| nssv3978911 | Submitted genomic | NC_000006.11:g.(17 0783957_?)_(?_1707 84072)ins? | GRCh37 (hg19) | NC_000006.11 | Chr6 | 170,783,957 | 170,784,072 |