nsv4434363
- 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:49,203
- 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: 851 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: 851 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4434363 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 34,778,257 | 34,827,459 |
| nsv4434363 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,586 | 319,788 |
| nsv4434363 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000004.11 | Chr4 | 34,779,879 | 34,829,081 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15751857 | deletion | NB12 | Sequencing | Sequence alignment | 599 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15751857 | Remapped | Perfect | NW_003315915.1:g.2 70586_319788del | GRCh38.p12 | Second Pass | NW_003315915.1 | Chr4|NW_00 3315915.1 | 270,586 | 319,788 |
| nssv15751857 | Remapped | Perfect | NC_000004.12:g.347 78257_34827459del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 34,778,257 | 34,827,459 |
| nssv15751857 | Submitted genomic | NC_000004.11:g.347 79879_34829081del | GRCh37.p13 | NC_000004.11 | Chr4 | 34,779,879 | 34,829,081 |