nsv4716414
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha et al. 2021
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: 168 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 68 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 165 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4716414 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 20,886,915 | 20,886,916 |
| nsv4716414 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315962.1 | Chr19|NW_0 03315962.1 | 230,191 | 230,192 |
| nsv4716414 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 21,069,721 | 21,069,722 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16242812 | deletion | B381 | Sequencing | Paired-end mapping | 1 | 5,743 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16242812 | Remapped | Perfect | NW_003315962.1:g.2 30191_230192del | GRCh38.p12 | Second Pass | NW_003315962.1 | Chr19|NW_0 03315962.1 | 230,191 | 230,192 |
| nssv16242812 | Remapped | Perfect | NC_000019.10:g.208 86915_20886916del | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 20,886,915 | 20,886,916 |
| nssv16242812 | Submitted genomic | NC_000019.9:g.2106 9721_21069722del | GRCh37 (hg19) | NC_000019.9 | Chr19 | 21,069,721 | 21,069,722 |