nsv6441113
- Organism: Homo sapiens
- Study:nstd223 (Sedlazeck et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,017
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: 126 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 126 SVs from 23 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6441113 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000009.12 | Chr9 | 128,408,486 | 128,409,502 | ||
| nsv6441113 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000009.11 | Chr9 | 131,170,765 | 131,171,781 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18176873 | deletion | Sequencing | Sequence alignment |
| nssv18236987 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18176873 | Submitted genomic | NC_000009.12:g.128 408486_128409502de l | GRCh38 (hg38) | NC_000009.12 | Chr9 | 128,408,486 | 128,409,502 | ||
| nssv18236987 | Submitted genomic | NC_000009.12:g.128 408486_128409502du p | GRCh38 (hg38) | NC_000009.12 | Chr9 | 128,408,486 | 128,409,502 | ||
| nssv18176873 | Remapped | Perfect | NC_000009.11:g.131 170765_131171781de l | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 131,170,765 | 131,171,781 |
| nssv18236987 | Remapped | Perfect | NC_000009.11:g.131 170765_131171781du p | GRCh37.p13 | First Pass | NC_000009.11 | Chr9 | 131,170,765 | 131,171,781 |
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) |
|---|---|---|---|
| nssv18176873 | <0.001 | 4 | 38304 |
| nssv18236987 | <0.001 | 1 | 39124 |