nsv4938666
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,952
- Publication(s):Abel et al. 2020
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: 102 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 102 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4938666 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 134,190,562 (-73, +73) | 134,193,513 (-715, +29) | ||
| nsv4938666 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 133,526,253 (-73, +73) | 133,529,204 (-715, +29) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16471942 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16471942 | Submitted genomic | NC_000005.10:g.(13 4190489_134190635) _(134192798_134193 542)del | GRCh38 (hg38) | NC_000005.10 | Chr5 | 134,190,562 (-73, +73) | 134,193,513 (-715, +29) | ||
| nssv16471942 | Remapped | Perfect | NC_000005.9:g.(133 526180_133526326)_ (133528489_1335292 33)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 133,526,253 (-73, +73) | 133,529,204 (-715, +29) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16471942 | <0.001 | 1 | 29246 |