nsv1034843
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:9
- Validation:Not tested
- Clinical Assertions: No
- Region Size:119,531
- Publication(s):Coe et al. 2014
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: 2223 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 2223 SVs from 103 studies. See in: genome view
Overlapping variant regions from other studies: 749 SVs from 33 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1034843 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nsv1034843 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nsv1034843 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3445167 | copy number loss | 9867575 | Oligo aCGH | Probe signal intensity | nssv3453738, nssv3457783 |
| nssv3449580 | copy number gain | 9871498 | Oligo aCGH | Probe signal intensity | |
| nssv3450586 | copy number loss | 9868924 | Oligo aCGH | Probe signal intensity | nssv3467597 |
| nssv3451737 | copy number loss | 9869307 | Oligo aCGH | Probe signal intensity | nssv3457021 |
| nssv3454195 | copy number loss | 9872248 | Oligo aCGH | Probe signal intensity | nssv3473279 |
| nssv3454728 | copy number gain | 9888571 | Oligo aCGH | Probe signal intensity | |
| nssv3456469 | copy number loss | 9884343 | Oligo aCGH | Probe signal intensity | nssv3448470 |
| nssv3460005 | copy number gain | 9869368 | Oligo aCGH | Probe signal intensity | |
| nssv3461585 | copy number loss | 9873975 | Oligo aCGH | Probe signal intensity | nssv3452033, nssv3481139 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3445167 | Remapped | Perfect | NC_000006.12:g.(?_ 78174619)_(7829414 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nssv3449580 | Remapped | Perfect | NC_000006.12:g.(?_ 78174619)_(7829414 9_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nssv3450586 | Remapped | Perfect | NC_000006.12:g.(?_ 78174619)_(7829414 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nssv3451737 | Remapped | Perfect | NC_000006.12:g.(?_ 78174619)_(7829414 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nssv3454195 | Remapped | Perfect | NC_000006.12:g.(?_ 78174619)_(7829414 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nssv3454728 | Remapped | Perfect | NC_000006.12:g.(?_ 78174619)_(7829414 9_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nssv3456469 | Remapped | Perfect | NC_000006.12:g.(?_ 78174619)_(7829414 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nssv3460005 | Remapped | Perfect | NC_000006.12:g.(?_ 78174619)_(7829414 9_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nssv3461585 | Remapped | Perfect | NC_000006.12:g.(?_ 78174619)_(7829414 9_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,174,619 | 78,294,149 |
| nssv3445167 | Remapped | Perfect | NC_000006.11:g.(?_ 78884336)_(7900386 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nssv3449580 | Remapped | Perfect | NC_000006.11:g.(?_ 78884336)_(7900386 6_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nssv3450586 | Remapped | Perfect | NC_000006.11:g.(?_ 78884336)_(7900386 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nssv3451737 | Remapped | Perfect | NC_000006.11:g.(?_ 78884336)_(7900386 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nssv3454195 | Remapped | Perfect | NC_000006.11:g.(?_ 78884336)_(7900386 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nssv3454728 | Remapped | Perfect | NC_000006.11:g.(?_ 78884336)_(7900386 6_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nssv3456469 | Remapped | Perfect | NC_000006.11:g.(?_ 78884336)_(7900386 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nssv3460005 | Remapped | Perfect | NC_000006.11:g.(?_ 78884336)_(7900386 6_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nssv3461585 | Remapped | Perfect | NC_000006.11:g.(?_ 78884336)_(7900386 6_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,884,336 | 79,003,866 |
| nssv3445167 | Submitted genomic | NC_000006.10:g.(?_ 78941055)_(7906058 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 | ||
| nssv3449580 | Submitted genomic | NC_000006.10:g.(?_ 78941055)_(7906058 5_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 | ||
| nssv3450586 | Submitted genomic | NC_000006.10:g.(?_ 78941055)_(7906058 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 | ||
| nssv3451737 | Submitted genomic | NC_000006.10:g.(?_ 78941055)_(7906058 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 | ||
| nssv3454195 | Submitted genomic | NC_000006.10:g.(?_ 78941055)_(7906058 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 | ||
| nssv3454728 | Submitted genomic | NC_000006.10:g.(?_ 78941055)_(7906058 5_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 | ||
| nssv3456469 | Submitted genomic | NC_000006.10:g.(?_ 78941055)_(7906058 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 | ||
| nssv3460005 | Submitted genomic | NC_000006.10:g.(?_ 78941055)_(7906058 5_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 | ||
| nssv3461585 | Submitted genomic | NC_000006.10:g.(?_ 78941055)_(7906058 5_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 78,941,055 | 79,060,585 |