nsv4366600
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:711,169
- 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: 4651 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 5594 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 4187 SVs from 97 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4366600 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,280,317 |
| nsv4366600 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nsv4366600 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,525,299 | 106,736,911 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15614306 | copy number gain | 1-0742-003 | SNP array | Genotyping | 12 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15614306 | Remapped | Pass | NT_187600.1:g.(?_5 02910)_(1214078_?) dup | GRCh38.p12 | First Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 502,910 | 1,214,078 |
| nssv15614306 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062803 17_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,280,317 |
| nssv15614306 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1067369 11_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,736,911 |