nsv3132221
- Organism: Homo sapiens
- Study:nstd151 (Exome Aggregation Consortium CNVs)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:89,254
- Description:qual score = 99
- 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: 194 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 194 SVs from 45 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3132221 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 36,801,848 | 36,891,101 |
| nsv3132221 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 37,267,449 | 37,356,702 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14109723 | copy number loss | Sequencing | Read depth |
| nssv14114803 | copy number gain | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14109723 | Remapped | Perfect | NC_000001.11:g.(?_ 36801848)_(3689110 1_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 36,801,848 | 36,891,101 |
| nssv14114803 | Remapped | Perfect | NC_000001.11:g.(?_ 36801848)_(3689110 1_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 36,801,848 | 36,891,101 |
| nssv14109723 | Submitted genomic | NC_000001.10:g.(?_ 37267449)_(3735670 2_?)del | GRCh37 (hg19) | NC_000001.10 | Chr1 | 37,267,449 | 37,356,702 | ||
| nssv14114803 | Submitted genomic | NC_000001.10:g.(?_ 37267449)_(3735670 2_?)dup | GRCh37 (hg19) | NC_000001.10 | Chr1 | 37,267,449 | 37,356,702 |