nsv4531919
- 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:1,501
- 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: 28 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 2 studies. See in: genome view
Overlapping variant regions from other studies: 26 SVs from 10 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4531919 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 41,369,534 | 41,371,034 |
| nsv4531919 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315953.2 | Chr17|NW_0 03315953.2 | 69,228 | 70,727 |
| nsv4531919 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000017.10 | Chr17 | 39,525,786 | 39,527,286 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15957901 | duplication | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15957901 | Remapped | Good | NW_003315953.2:g.6 9228_70727dup | GRCh38.p12 | Second Pass | NW_003315953.2 | Chr17|NW_0 03315953.2 | 69,228 | 70,727 |
| nssv15957901 | Remapped | Perfect | NC_000017.11:g.413 69534_41371034dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 41,369,534 | 41,371,034 |
| nssv15957901 | Submitted genomic | NC_000017.10:g.395 25786_39527286dup | GRCh37.p13 | NC_000017.10 | Chr17 | 39,525,786 | 39,527,286 |
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) |
|---|---|---|---|
| nssv15957901 | 0.003 | 62 | 21686 |