nsv4811978
- 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:2,564
- 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: 661 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 659 SVs from 78 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4811978 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 76,621,713 (-1, +109) | 76,624,276 (-102, +2) |
| nsv4811978 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 108,548 (-1, +109) | 111,111 (-102, +2) |
| nsv4811978 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 76,251,030 (-1, +109) | 76,253,593 (-102, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16336928 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16336928 | Remapped | Perfect | NT_187561.1:g.(108 547_108657)_(11100 9_111113)del | GRCh38.p12 | Second Pass | NT_187561.1 | Chr7|NT_18 7561.1 | 108,548 (-1, +109) | 111,111 (-102, +2) |
| nssv16336928 | Remapped | Perfect | NC_000007.14:g.(76 621712_76621822)_( 76624174_76624278) del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 76,621,713 (-1, +109) | 76,624,276 (-102, +2) |
| nssv16336928 | Submitted genomic | NC_000007.13:g.(76 251029_76251139)_( 76253491_76253595) del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 76,251,030 (-1, +109) | 76,253,593 (-102, +2) |
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) |
|---|---|---|---|
| nssv16336928 | <0.001 | 1 | 16834 |