nsv4528635
- Organism: Homo sapiens
- Study:nstd166 (gnomAD Structural Variants)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:102
- Publication(s):gnomAD_Structural_Variants
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: 36 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 38 SVs from 11 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4528635 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,249,035 | 56,249,136 |
| nsv4528635 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 59,784 | 59,885 |
| nsv4528635 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000011.9 | Chr11 | 56,016,511 | 56,016,612 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15801255 | deletion | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15801255 | Remapped | Perfect | NW_003871073.1:g.5 9784_59885del | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 59,784 | 59,885 |
| nssv15801255 | Remapped | Perfect | NC_000011.10:g.562 49035_56249136del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,249,035 | 56,249,136 |
| nssv15801255 | Submitted genomic | NC_000011.9:g.5601 6511_56016612del | GRCh37.p13 | NC_000011.9 | Chr11 | 56,016,511 | 56,016,612 |
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) |
|---|---|---|---|
| nssv15801255 | <0.001 | 12 | 21688 |