nsv5308478
- Organism: Homo sapiens
- Study:nstd204 (Chen et al. 2021)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,189
- Publication(s):Chen et al. 2021
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: 311 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 309 SVs from 60 studies. See in: genome view
Overlapping variant regions from other studies: 150 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5308478 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000005.10 | Chr5 | 141,174,594 (-17, +1) | 141,179,782 (-3, +22) | ||
| nsv5308478 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,554,175 (-17, +1) | 140,559,363 (-3, +22) |
| nsv5308478 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 409,770 (-17, +1) | 414,958 (-3, +22) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16738131 | duplication | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16738131 | Submitted genomic | NC_000005.10:g.(14 1174577_141174595) _(141179779_141179 804)dup | GRCh38.p13 | NC_000005.10 | Chr5 | 141,174,594 (-17, +1) | 141,179,782 (-3, +22) | ||
| nssv16738131 | Remapped | Perfect | NW_004775428.1:g.( 409753_409771)_(41 4955_414980)dup | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 409,770 (-17, +1) | 414,958 (-3, +22) |
| nssv16738131 | Remapped | Perfect | NC_000005.9:g.(140 554158_140554176)_ (140559360_1405593 85)dup | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,554,175 (-17, +1) | 140,559,363 (-3, +22) |
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) |
|---|---|
| nssv16738131 | 0.235 |