nsv3163703
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:102,620
- Description:qual score = 98
- Publication(s):Exome Aggregation Consortium CNVs
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: 789 SVs from 89 studies. See in: genome view
Overlapping variant regions from other studies: 144 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 786 SVs from 89 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3163703 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 41,265,376 | 41,367,995 |
| nsv3163703 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315953.2 | Chr17|NW_0 03315953.2 | 72,266 | 133,151 |
| nsv3163703 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 39,421,628 | 39,524,247 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14214296 | copy number loss | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14214296 | Remapped | Pass | NW_003315953.2:g.( ?_72266)_(133151_? )del | GRCh38.p12 | Second Pass | NW_003315953.2 | Chr17|NW_0 03315953.2 | 72,266 | 133,151 |
| nssv14214296 | Remapped | Perfect | NC_000017.11:g.(?_ 41265376)_(4136799 5_?)del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 41,265,376 | 41,367,995 |
| nssv14214296 | Submitted genomic | NC_000017.10:g.(?_ 39421628)_(3952424 7_?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 39,421,628 | 39,524,247 |