nsv4802474
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:124
- 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: 116 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 7 studies. See in: genome view
Overlapping variant regions from other studies: 116 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4802474 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 33,943,800 | 33,943,923 |
| nsv4802474 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187551.1 | Chr5|NT_18 7551.1 | 145,122 | 145,245 |
| nsv4802474 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 33,943,905 | 33,944,028 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16324822 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16324822 | Remapped | Perfect | NT_187551.1:g.1451 22_145245del | GRCh38.p12 | Second Pass | NT_187551.1 | Chr5|NT_18 7551.1 | 145,122 | 145,245 |
| nssv16324822 | Remapped | Perfect | NC_000005.10:g.339 43800_33943923del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 33,943,800 | 33,943,923 |
| nssv16324822 | Submitted genomic | NC_000005.9:g.3394 3905_33944028del | GRCh37 (hg19) | NC_000005.9 | Chr5 | 33,943,905 | 33,944,028 |
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) |
|---|---|---|---|
| nssv16324822 | <0.001 | 2 | 16834 |