nsv4844601
- 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:575
- 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: 195 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 56 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 63 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 210 SVs from 52 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4844601 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | Second Pass | NC_000011.10 | Chr11 | 1,069,924 (-1, +1) | 1,070,498 |
| nsv4844601 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_3 | First Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 144,317 (-1, +1) | 144,891 |
| nsv4844601 | Remapped | Good | GRCh38.p12 | PATCHES | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 57,327 (-1, +1) | 57,877 |
| nsv4844601 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 1,069,924 (-1, +1) | 1,070,498 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16356807 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16356807 | Remapped | Perfect | NT_187681.1:g.(144 316_144318)_144891 del | GRCh38.p12 | First Pass | NT_187681.1 | Chr11|NT_1 87681.1 | 144,317 (-1, +1) | 144,891 |
| nssv16356807 | Remapped | Good | NW_015148966.1:g.( 57326_57328)_57877 del | GRCh38.p12 | Second Pass | NW_015148966.1 | Chr11|NW_0 15148966.1 | 57,327 (-1, +1) | 57,877 |
| nssv16356807 | Remapped | Perfect | NC_000011.10:g.(10 69923_1069925)_107 0498del | GRCh38.p12 | Second Pass | NC_000011.10 | Chr11 | 1,069,924 (-1, +1) | 1,070,498 |
| nssv16356807 | Submitted genomic | NC_000011.9:g.(106 9923_1069925)_1070 498del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 1,069,924 (-1, +1) | 1,070,498 |
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) |
|---|---|---|---|
| nssv16356807 | <0.001 | 9 | 16834 |