nsv5557397
- Organism: Homo sapiens
- Study:nstd206 (Byrska-Bishop et al. 2022)
- Variant Type:sequence alteration
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:61,381
- Description:complex variant
- Publication(s):Byrska-Bishop et al. 2022
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: 528 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 530 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 84 SVs from 27 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5557397 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 103,988,723 | 104,050,103 | ||
| nsv5557397 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 103,243,299 | 103,304,669 |
| nsv5557397 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 125,139 | 186,519 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17737140 | sequence alteration | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|
| nssv17737140 | Submitted genomic | GRCh38 (hg38) | NC_000023.11 | ChrX | 103,988,723 | 104,050,103 | ||
| nssv17737140 | Remapped | Perfect | GRCh37.p13 | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 125,139 | 186,519 |
| nssv17737140 | Remapped | Good | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 103,243,299 | 103,304,669 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17737140 | <0.001 | 6 | 6404 |