nsv4434366
- Organism: Homo sapiens
- Study:nstd172 (Deng et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:49,045
- Publication(s):Deng et al. 2019
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: 850 SVs from 87 studies. See in: genome view
Overlapping variant regions from other studies: 685 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 850 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4434366 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,778,342 | 34,827,386 |
| nsv4434366 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,671 | 319,715 |
| nsv4434366 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000004.11 | Chr4 | 34,779,964 | 34,829,008 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15750491 | deletion | NB11 | Sequencing | Sequence alignment | 596 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15750491 | Remapped | Perfect | NW_003315915.1:g.2 70671_319715del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,671 | 319,715 |
| nssv15750491 | Remapped | Perfect | NC_000004.12:g.347 78342_34827386del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,778,342 | 34,827,386 |
| nssv15750491 | Submitted genomic | NC_000004.11:g.347 79964_34829008del | GRCh37.p13 | NC_000004.11 | Chr4 | 34,779,964 | 34,829,008 |