nsv6628755
- 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:13,245
- 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: 224 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 50 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 49 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6628755 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 20,333,437 | 20,346,681 |
| nsv6628755 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187535.1 | Chr3|NT_18 7535.1 | 60,022 | 73,266 |
| nsv6628755 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 20,374,929 | 20,388,173 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18309897 | deletion | OSC7105 | SNP array | Probe signal intensity | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18309897 | Remapped | Perfect | NT_187535.1:g.(?_6 0022)_(73266_?)del | GRCh38.p12 | Second Pass | NT_187535.1 | Chr3|NT_18 7535.1 | 60,022 | 73,266 |
| nssv18309897 | Remapped | Perfect | NC_000003.12:g.(?_ 20333437)_(2034668 1_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 20,333,437 | 20,346,681 |
| nssv18309897 | Submitted genomic | NC_000003.11:g.(?_ 20374929)_(2038817 3_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 20,374,929 | 20,388,173 |