nsv1304625
- Organism: Homo sapiens
- Study:nstd122 (Duyzend et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:207,107
- Publication(s):Duyzend et al. 2015
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: 803 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 803 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 276 SVs from 20 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv1304625 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 102,875,835 | 103,082,941 |
| nsv1304625 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 103,341,391 | 103,548,497 |
| nsv1304625 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 103,113,979 | 103,321,085 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv8145393 | copy number loss | SNP array | Probe signal intensity |
| nssv8151160 | copy number loss | SNP array | Probe signal intensity |
| nssv8153578 | copy number loss | SNP array | Probe signal intensity |
| nssv8156320 | copy number gain | SNP array | Probe signal intensity |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv8145393 | Remapped | Perfect | NC_000001.11:g.(?_ 102875835)_(103082 941_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 102,875,835 | 103,082,941 |
| nssv8151160 | Remapped | Perfect | NC_000001.11:g.(?_ 102875835)_(103082 941_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 102,875,835 | 103,082,941 |
| nssv8153578 | Remapped | Perfect | NC_000001.11:g.(?_ 102875835)_(103082 941_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 102,875,835 | 103,082,941 |
| nssv8156320 | Remapped | Perfect | NC_000001.11:g.(?_ 102875835)_(103082 941_?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 102,875,835 | 103,082,941 |
| nssv8145393 | Remapped | Perfect | NC_000001.10:g.(?_ 103341391)_(103548 497_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 103,341,391 | 103,548,497 |
| nssv8151160 | Remapped | Perfect | NC_000001.10:g.(?_ 103341391)_(103548 497_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 103,341,391 | 103,548,497 |
| nssv8153578 | Remapped | Perfect | NC_000001.10:g.(?_ 103341391)_(103548 497_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 103,341,391 | 103,548,497 |
| nssv8156320 | Remapped | Perfect | NC_000001.10:g.(?_ 103341391)_(103548 497_?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 103,341,391 | 103,548,497 |
| nssv8145393 | Submitted genomic | NC_000001.9:g.(?_1 03113979)_(1033210 85_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,113,979 | 103,321,085 | ||
| nssv8151160 | Submitted genomic | NC_000001.9:g.(?_1 03113979)_(1033210 85_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,113,979 | 103,321,085 | ||
| nssv8153578 | Submitted genomic | NC_000001.9:g.(?_1 03113979)_(1033210 85_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,113,979 | 103,321,085 | ||
| nssv8156320 | Submitted genomic | NC_000001.9:g.(?_1 03113979)_(1033210 85_?)dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 103,113,979 | 103,321,085 |