nsv4798004
- 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:9,316
- 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: 147 SVs from 31 studies. See in: genome view
Overlapping variant regions from other studies: 19 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 31 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4798004 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 151,604,678 (-1, +1) | 151,613,993 (-1) |
| nsv4798004 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315913.1 | Chr3|NW_00 3315913.1 | 15,313 (-1, +1) | 24,628 (-1) |
| nsv4798004 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000003.11 | Chr3 | 151,322,466 (-1, +1) | 151,331,781 (-1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16318312 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16318312 | Remapped | Perfect | NW_003315913.1:g.( 15312_15314)_(2462 7_?)del | GRCh38.p12 | Second Pass | NW_003315913.1 | Chr3|NW_00 3315913.1 | 15,313 (-1, +1) | 24,628 (-1) |
| nssv16318312 | Remapped | Perfect | NC_000003.12:g.(15 1604677_151604679) _(151613992_?)del | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 151,604,678 (-1, +1) | 151,613,993 (-1) |
| nssv16318312 | Submitted genomic | NC_000003.11:g.(15 1322465_151322467) _(151331780_?)del | GRCh37 (hg19) | NC_000003.11 | Chr3 | 151,322,466 (-1, +1) | 151,331,781 (-1) |
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) |
|---|---|---|---|
| nssv16318312 | <0.001 | 1 | 16834 |