nsv1110709
- 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:202
- 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: 517 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 186 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 261 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1110709 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 353,488 | 353,689 |
| nsv1110709 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 48,949 | 49,150 |
| nsv1110709 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 324,932 | 325,131 |
| nsv1110709 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 203,279 | 203,480 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3961117 | insertion | KWS1 | Sequencing | Read depth and paired-end mapping | 22,470 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3961117 | Remapped | Perfect | NT_187662.1:g.(489 49_?)_(?_49150)ins ? | GRCh38.p12 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 48,949 | 49,150 |
| nssv3961117 | Remapped | Good | NW_003315952.3:g.( 324932_?)_(?_32513 1)ins? | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 324,932 | 325,131 |
| nssv3961117 | Remapped | Perfect | NC_000017.11:g.(35 3488_?)_(?_353689) ins? | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 353,488 | 353,689 |
| nssv3961117 | Submitted genomic | NC_000017.10:g.(20 3279_?)_(?_203480) ins? | GRCh37 (hg19) | NC_000017.10 | Chr17 | 203,279 | 203,480 |