nsv4871494
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,679
- 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: 783 SVs from 29 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 106 SVs from 12 studies. See in: genome view
Overlapping variant regions from other studies: 784 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4871494 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 364,692 (-56, +56) | 366,370 (-30, +30) |
| nsv4871494 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187667.1 | ChrX|NT_18 7667.1 | 37,185 (-56, +56) | 38,863 (-30, +30) |
| nsv4871494 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187634.1 | ChrX|NT_18 7634.1 | 48,045 (-56, +56) | 49,723 (-30, +30) |
| nsv4871494 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 325,427 (-56, +56) | 327,105 (-30, +30) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16310931 | alu deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16310931 | Remapped | Perfect | NT_187667.1:g.(371 29_37241)_(38833_3 8893)del | GRCh38.p12 | Second Pass | NT_187667.1 | ChrX|NT_18 7667.1 | 37,185 (-56, +56) | 38,863 (-30, +30) |
| nssv16310931 | Remapped | Perfect | NT_187634.1:g.(479 89_48101)_(49693_4 9753)del | GRCh38.p12 | Second Pass | NT_187634.1 | ChrX|NT_18 7634.1 | 48,045 (-56, +56) | 49,723 (-30, +30) |
| nssv16310931 | Remapped | Perfect | NC_000023.11:g.(36 4636_364748)_(3663 40_366400)del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 364,692 (-56, +56) | 366,370 (-30, +30) |
| nssv16310931 | Submitted genomic | NC_000023.10:g.(32 5371_325483)_(3270 75_327135)del | GRCh37 (hg19) | NC_000023.10 | ChrX | 325,427 (-56, +56) | 327,105 (-30, +30) |
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) |
|---|---|---|---|
| nssv16310931 | 0.104 | 1742 | 16826 |