nsv1128725
- Organism: Homo sapiens
- Study:nstd106 (Alsmadi et al. 2014)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:79,401
- 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: 538 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 556 SVs from 62 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1128725 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 28,595,754 | 28,675,154 |
| nsv1128725 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 871,545 | 950,944 |
| nsv1128725 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 757,759 | 837,158 |
| nsv1128725 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 28,840,900 | 28,920,300 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3960638 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv3960638 | Remapped | Good | NT_187660.1:g.(871 545_?)_(?_950944)d up | GRCh38.p12 | Second Pass | NT_187660.1 | Chr15|NT_1 87660.1 | 871,545 | 950,944 |
| nssv3960638 | Remapped | Good | NW_011332701.1:g.( 757759_?)_(?_83715 8)dup | GRCh38.p12 | Second Pass | NW_011332701.1 | Chr15|NW_0 11332701.1 | 757,759 | 837,158 |
| nssv3960638 | Remapped | Perfect | NC_000015.10:g.(28 595754_?)_(?_28675 154)dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 28,595,754 | 28,675,154 |
| nssv3960638 | Submitted genomic | NC_000015.9:g.(288 40900_?)_(?_289203 00)dup | GRCh37 (hg19) | NC_000015.9 | Chr15 | 28,840,900 | 28,920,300 |