nsv6402601
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck 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:5,600
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: 279 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 278 SVs from 57 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 30 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6402601 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000005.10 | Chr5 | 141,173,201 | 141,178,800 | ||
| nsv6402601 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000005.9 | Chr5 | 140,552,782 | 140,558,381 |
| nsv6402601 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 408,377 | 413,976 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18213370 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18213370 | Submitted genomic | NC_000005.10:g.141 173201_141178800du p | GRCh38 (hg38) | NC_000005.10 | Chr5 | 141,173,201 | 141,178,800 | ||
| nssv18213370 | Remapped | Perfect | NW_004775428.1:g.4 08377_413976dup | GRCh37.p13 | First Pass | NW_004775428.1 | Chr5|NW_00 4775428.1 | 408,377 | 413,976 |
| nssv18213370 | Remapped | Perfect | NC_000005.9:g.1405 52782_140558381dup | GRCh37.p13 | Second Pass | NC_000005.9 | Chr5 | 140,552,782 | 140,558,381 |
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) |
|---|---|---|---|
| nssv18213370 | 0.357 | 12450 | 34870 |