nsv6629668
- 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:19,286
- 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: 250 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 87 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 250 SVs from 47 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv6629668 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 21,544,914 | 21,564,199 |
| nsv6629668 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187540.1 | Chr4|NT_18 7540.1 | 23,548 | 42,833 |
| nsv6629668 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 21,546,537 | 21,565,822 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18321023 | deletion | OSC0108 | SNP array | Probe signal intensity | nssv18321027, nssv18320113, nssv18320108 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18321023 | Remapped | Perfect | NT_187540.1:g.(?_2 3548)_(42833_?)del | GRCh38.p12 | Second Pass | NT_187540.1 | Chr4|NT_18 7540.1 | 23,548 | 42,833 |
| nssv18321023 | Remapped | Perfect | NC_000004.12:g.(?_ 21544914)_(2156419 9_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 21,544,914 | 21,564,199 |
| nssv18321023 | Submitted genomic | NC_000004.11:g.(?_ 21546537)_(2156582 2_?)del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 21,546,537 | 21,565,822 |