nsv3418824
- Organism: Homo sapiens
- Study:nstd164 (Karolak 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:2,259,765
- Publication(s):Karolak 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: 5697 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 5697 SVs from 96 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3418824 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 42,984,921 | 45,244,685 |
| nsv3418824 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 42,985,023 | 45,244,787 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14814888 | copy number loss | P076 | Sequencing | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14814888 | Remapped | Perfect | NC_000005.10:g.(?_ 42984921)_(4524468 5_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 42,984,921 | 45,244,685 |
| nssv14814888 | Submitted genomic | NC_000005.9:g.(?_4 2985023)_(45244787 _?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 42,985,023 | 45,244,787 |