nsv4136193
- 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:61,001
- 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: 222 SVs from 17 studies. See in: genome view
Overlapping variant regions from other studies: 31 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 17 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4136193 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 169,778,904 | 169,839,904 |
| nsv4136193 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187552.1 | Chr6|NT_18 7552.1 | 54,106 | 115,106 |
| nsv4136193 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000006.11 | Chr6 | 170,179,000 | 170,240,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv15979739 | duplication | Sequencing | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15979739 | Remapped | Perfect | NT_187552.1:g.5410 6_115106dup | GRCh38.p12 | Second Pass | NT_187552.1 | Chr6|NT_18 7552.1 | 54,106 | 115,106 |
| nssv15979739 | Remapped | Perfect | NC_000006.12:g.169 778904_169839904du p | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 169,778,904 | 169,839,904 |
| nssv15979739 | Submitted genomic | NC_000006.11:g.170 179000_170240000du p | GRCh37.p13 | NC_000006.11 | Chr6 | 170,179,000 | 170,240,000 |
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) |
|---|---|---|---|
| nssv15979739 | 4.6e-005 | 1 | 21694 |