nsv3169057
- Organism: Homo sapiens
- Study:nstd158 (Cleal et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:108,328
- Publication(s):Cleal 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: 1377 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 1377 SVs from 79 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3169057 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 111,491,586 (-230, +230) | 111,599,913 (-230, +230) |
nsv3169057 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 111,131,642 (-230, +230) | 111,239,969 (-230, +230) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14238934 | deletion | DB37 | Sequencing | Paired-end mapping | 28 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14238934 | Remapped | Perfect | NC_000007.14:g.(11 1491356_111491816) _(111599683_111600 143)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 111,491,586 (-230, +230) | 111,599,913 (-230, +230) |
nssv14238934 | Submitted genomic | NC_000007.13:g.(11 1131412_111131872) _(111239739_111240 199)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 111,131,642 (-230, +230) | 111,239,969 (-230, +230) |