nsv4366291
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:20,934
- Publication(s):Zarrei 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: 558 SVs from 64 studies. See in: genome view
Overlapping variant regions from other studies: 233 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 563 SVs from 64 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4366291 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 245,464,173 | 245,485,106 |
| nsv4366291 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 158,477 | 179,410 |
| nsv4366291 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 245,627,475 | 245,648,408 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15632294 | copy number loss | 10-1104-002 | SNP array | Genotyping | 24 |
| nssv15656654 | copy number loss | 3-0101-001 | SNP array | Genotyping | 25 |
| nssv15657336 | copy number loss | 3-0380-002 | SNP array | Genotyping | 28 |
| nssv15694061 | copy number loss | 214314 | SNP array | Genotyping | 21 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15632294 | Remapped | Perfect | NT_187516.1:g.(?_1 58477)_(179410_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 158,477 | 179,410 |
| nssv15656654 | Remapped | Perfect | NT_187516.1:g.(?_1 58477)_(179410_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 158,477 | 179,410 |
| nssv15657336 | Remapped | Perfect | NT_187516.1:g.(?_1 58477)_(179410_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 158,477 | 179,410 |
| nssv15694061 | Remapped | Perfect | NT_187516.1:g.(?_1 58477)_(179410_?)d el | GRCh38.p12 | Second Pass | NT_187516.1 | Chr1|NT_18 7516.1 | 158,477 | 179,410 |
| nssv15632294 | Remapped | Perfect | NC_000001.11:g.(?_ 245464173)_(245485 106_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,464,173 | 245,485,106 |
| nssv15656654 | Remapped | Perfect | NC_000001.11:g.(?_ 245464173)_(245485 106_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,464,173 | 245,485,106 |
| nssv15657336 | Remapped | Perfect | NC_000001.11:g.(?_ 245464173)_(245485 106_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,464,173 | 245,485,106 |
| nssv15694061 | Remapped | Perfect | NC_000001.11:g.(?_ 245464173)_(245485 106_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 245,464,173 | 245,485,106 |
| nssv15632294 | Submitted genomic | NC_000001.10:g.(?_ 245627475)_(245648 408_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,627,475 | 245,648,408 | ||
| nssv15656654 | Submitted genomic | NC_000001.10:g.(?_ 245627475)_(245648 408_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,627,475 | 245,648,408 | ||
| nssv15657336 | Submitted genomic | NC_000001.10:g.(?_ 245627475)_(245648 408_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,627,475 | 245,648,408 | ||
| nssv15694061 | Submitted genomic | NC_000001.10:g.(?_ 245627475)_(245648 408_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 245,627,475 | 245,648,408 |