nsv4894184
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:78
- 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: 559 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 536 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 81 SVs from 12 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4894184 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 153,947,848 | 153,947,925 | ||
| nsv4894184 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 153,213,299 | 153,213,376 |
| nsv4894184 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,381,827 | 1,381,904 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16592050 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16592050 | Submitted genomic | NC_000023.11:g.153 947848_153947925de l | GRCh38 (hg38) | NC_000023.11 | ChrX | 153,947,848 | 153,947,925 | ||
| nssv16592050 | Remapped | Perfect | NW_003871103.3:g.1 381827_1381904del | GRCh37.p13 | First Pass | NW_003871103.3 | ChrX|NW_00 3871103.3 | 1,381,827 | 1,381,904 |
| nssv16592050 | Remapped | Perfect | NC_000023.10:g.153 213299_153213376de l | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 153,213,299 | 153,213,376 |
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) |
|---|---|---|---|
| nssv16592050 | <0.001 | 2 | 29246 |