nsv3134499
- 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:308,007
- Description:qual score = 95
- 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: 698 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 442 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 698 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv3134499 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 128,089,687 | 128,397,693 |
| nsv3134499 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187556.1 | Chr6|NT_18 7556.1 | 439,021 | 747,027 |
| nsv3134499 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 128,410,832 | 128,718,838 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv14168840 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv14168840 | Remapped | Perfect | NT_187556.1:g.(?_4 39021)_(747027_?)d el | GRCh38.p12 | Second Pass | NT_187556.1 | Chr6|NT_18 7556.1 | 439,021 | 747,027 |
| nssv14168840 | Remapped | Perfect | NC_000006.12:g.(?_ 128089687)_(128397 693_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 128,089,687 | 128,397,693 |
| nssv14168840 | Submitted genomic | NC_000006.11:g.(?_ 128410832)_(128718 838_?)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 128,410,832 | 128,718,838 |