nsv3352775
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:10
- Validation:Not tested
- Clinical Assertions: No
- Region Size:8,276
- Publication(s):Audano et al. 2019
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: 238 SVs from 49 studies. See in: genome view
Overlapping variant regions from other studies: 236 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3352775 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nsv3352775 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14572936 | deletion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14577062 | deletion | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14578873 | deletion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14581034 | deletion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14582480 | deletion | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14583097 | deletion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14583506 | deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14587836 | deletion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14588836 | deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14591649 | deletion | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14572936 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14577062 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14578873 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14581034 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14582480 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14583097 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14583506 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14587836 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14588836 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14591649 | Submitted genomic | NC_000017.11:g.213 09595_21317870del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 21,309,595 | 21,317,870 | ||
| nssv14572936 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
| nssv14577062 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
| nssv14578873 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
| nssv14581034 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
| nssv14582480 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
| nssv14583097 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
| nssv14583506 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
| nssv14587836 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
| nssv14588836 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |
| nssv14591649 | Remapped | Perfect | NC_000017.10:g.212 12907_21221182delN C_000017.10:g.2121 2907_21221182del | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 21,212,907 | 21,221,182 |