nsv514220
- Organism: Homo sapiens
- Study:nstd46 (Campbell et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,169
- Publication(s):Campbell 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: 207 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 207 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 65 SVs from 19 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv514220 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 64,958,083 | 64,973,251 |
| nsv514220 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 65,823,801 | 65,838,969 |
| nsv514220 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000004.10 | Chr4 | 65,506,396 | 65,521,564 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv2906578 | copy number loss | NA18500 | Oligo aCGH | Probe signal intensity | 1 | 474 |
| nssv2906579 | copy number loss | NA18501 | Oligo aCGH | Probe signal intensity | 1 | 478 |
| nssv2906580 | copy number loss | NA18509 | Oligo aCGH | Probe signal intensity | 1 | 467 |
| nssv2906581 | copy number loss | NA18852 | Oligo aCGH | Probe signal intensity | 1 | 455 |
| nssv2906582 | copy number loss | NA18854 | Oligo aCGH | Probe signal intensity | 1 | 494 |
| nssv2906583 | copy number loss | NA19201 | Oligo aCGH | Probe signal intensity | 1 | 463 |
| nssv2906584 | copy number loss | NA19202 | Oligo aCGH | Probe signal intensity | 1 | 466 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2906578 | Remapped | Perfect | NC_000004.12:g.(?_ 64958083)_(6497325 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 64,958,083 | 64,973,251 |
| nssv2906579 | Remapped | Perfect | NC_000004.12:g.(?_ 64958083)_(6497325 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 64,958,083 | 64,973,251 |
| nssv2906580 | Remapped | Perfect | NC_000004.12:g.(?_ 64958083)_(6497325 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 64,958,083 | 64,973,251 |
| nssv2906581 | Remapped | Perfect | NC_000004.12:g.(?_ 64958083)_(6497325 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 64,958,083 | 64,973,251 |
| nssv2906582 | Remapped | Perfect | NC_000004.12:g.(?_ 64958083)_(6497325 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 64,958,083 | 64,973,251 |
| nssv2906583 | Remapped | Perfect | NC_000004.12:g.(?_ 64958083)_(6497325 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 64,958,083 | 64,973,251 |
| nssv2906584 | Remapped | Perfect | NC_000004.12:g.(?_ 64958083)_(6497325 1_?)del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 64,958,083 | 64,973,251 |
| nssv2906578 | Remapped | Perfect | NC_000004.11:g.(?_ 65823801)_(6583896 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 65,823,801 | 65,838,969 |
| nssv2906579 | Remapped | Perfect | NC_000004.11:g.(?_ 65823801)_(6583896 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 65,823,801 | 65,838,969 |
| nssv2906580 | Remapped | Perfect | NC_000004.11:g.(?_ 65823801)_(6583896 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 65,823,801 | 65,838,969 |
| nssv2906581 | Remapped | Perfect | NC_000004.11:g.(?_ 65823801)_(6583896 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 65,823,801 | 65,838,969 |
| nssv2906582 | Remapped | Perfect | NC_000004.11:g.(?_ 65823801)_(6583896 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 65,823,801 | 65,838,969 |
| nssv2906583 | Remapped | Perfect | NC_000004.11:g.(?_ 65823801)_(6583896 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 65,823,801 | 65,838,969 |
| nssv2906584 | Remapped | Perfect | NC_000004.11:g.(?_ 65823801)_(6583896 9_?)del | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 65,823,801 | 65,838,969 |
| nssv2906578 | Submitted genomic | NC_000004.10:g.(?_ 65506396)_(6552156 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 65,506,396 | 65,521,564 | ||
| nssv2906579 | Submitted genomic | NC_000004.10:g.(?_ 65506396)_(6552156 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 65,506,396 | 65,521,564 | ||
| nssv2906580 | Submitted genomic | NC_000004.10:g.(?_ 65506396)_(6552156 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 65,506,396 | 65,521,564 | ||
| nssv2906581 | Submitted genomic | NC_000004.10:g.(?_ 65506396)_(6552156 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 65,506,396 | 65,521,564 | ||
| nssv2906582 | Submitted genomic | NC_000004.10:g.(?_ 65506396)_(6552156 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 65,506,396 | 65,521,564 | ||
| nssv2906583 | Submitted genomic | NC_000004.10:g.(?_ 65506396)_(6552156 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 65,506,396 | 65,521,564 | ||
| nssv2906584 | Submitted genomic | NC_000004.10:g.(?_ 65506396)_(6552156 4_?)del | NCBI36 (hg18) | NC_000004.10 | Chr4 | 65,506,396 | 65,521,564 |