nsv6627246
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:315,203
- 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: 1197 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 1197 SVs from 88 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6627246 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 130,085,980 | 130,401,182 |
| nsv6627246 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 130,843,553 | 131,158,755 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18283062 | duplication | OSC2407 | SNP array | Probe signal intensity | nssv18283061, nssv18283990, nssv18283687 |
| nssv18321665 | deletion | OSC1109 | SNP array | Probe signal intensity | 9 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18283062 | Remapped | Perfect | NC_000002.12:g.(?_ 130085980)_(130401 182_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,085,980 | 130,401,182 |
| nssv18321665 | Remapped | Perfect | NC_000002.12:g.(?_ 130085980)_(130401 182_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 130,085,980 | 130,401,182 |
| nssv18283062 | Submitted genomic | NC_000002.11:g.(?_ 130843553)_(131158 755_?)dup | GRCh37 (hg19) | NC_000002.11 | Chr2 | 130,843,553 | 131,158,755 | ||
| nssv18321665 | Submitted genomic | NC_000002.11:g.(?_ 130843553)_(131158 755_?)del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 130,843,553 | 131,158,755 |