nsv6630213
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:100,894
- Publication(s):Zarrei et al. 2023
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: 352 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 352 SVs from 44 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6630213 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 110,975,111 | 111,076,004 |
| nsv6630213 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 110,310,810 | 110,411,702 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18284717 | deletion | OSC2488 | SNP array | Probe signal intensity | nssv18284112, nssv18284716, nssv18283436 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18284717 | Remapped | Good | NC_000005.10:g.(?_ 110975111)_(111076 004_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 110,975,111 | 111,076,004 |
| nssv18284717 | Submitted genomic | NC_000005.9:g.(?_1 10310810)_(1104117 02_?)del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 110,310,810 | 110,411,702 |