nsv590346
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:4
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,304
- Publication(s):Cooper et al. 2011
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: 153 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 152 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 63 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 | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv590346 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000003.12 | Chr3 | 53,045,032 | 53,046,335 |
| nsv590346 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 53,079,048 | 53,080,351 |
| nsv590346 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000003.10 | Chr3 | 53,054,088 | 53,055,391 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv963324 | copy number gain | SNP array | SNP genotyping analysis |
| nssv963325 | copy number gain | SNP array | SNP genotyping analysis |
| nssv963326 | copy number gain | SNP array | SNP genotyping analysis |
| nssv963327 | copy number gain | SNP array | SNP genotyping analysis |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv963324 | Remapped | Perfect | NC_000003.12:g.(?_ 53045032)_(5304633 5_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 53,045,032 | 53,046,335 |
| nssv963325 | Remapped | Perfect | NC_000003.12:g.(?_ 53045032)_(5304633 5_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 53,045,032 | 53,046,335 |
| nssv963326 | Remapped | Perfect | NC_000003.12:g.(?_ 53045032)_(5304633 5_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 53,045,032 | 53,046,335 |
| nssv963327 | Remapped | Perfect | NC_000003.12:g.(?_ 53045032)_(5304633 5_?)dup | GRCh38.p12 | First Pass | NC_000003.12 | Chr3 | 53,045,032 | 53,046,335 |
| nssv963324 | Remapped | Perfect | NC_000003.11:g.(?_ 53079048)_(5308035 1_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 53,079,048 | 53,080,351 |
| nssv963325 | Remapped | Perfect | NC_000003.11:g.(?_ 53079048)_(5308035 1_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 53,079,048 | 53,080,351 |
| nssv963326 | Remapped | Perfect | NC_000003.11:g.(?_ 53079048)_(5308035 1_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 53,079,048 | 53,080,351 |
| nssv963327 | Remapped | Perfect | NC_000003.11:g.(?_ 53079048)_(5308035 1_?)dup | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 53,079,048 | 53,080,351 |
| nssv963324 | Submitted genomic | NC_000003.10:g.(?_ 53054088)_(5305539 1_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 53,054,088 | 53,055,391 | ||
| nssv963325 | Submitted genomic | NC_000003.10:g.(?_ 53054088)_(5305539 1_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 53,054,088 | 53,055,391 | ||
| nssv963326 | Submitted genomic | NC_000003.10:g.(?_ 53054088)_(5305539 1_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 53,054,088 | 53,055,391 | ||
| nssv963327 | Submitted genomic | NC_000003.10:g.(?_ 53054088)_(5305539 1_?)dup | NCBI36 (hg18) | NC_000003.10 | Chr3 | 53,054,088 | 53,055,391 |