nsv534817
- Organism: Homo sapiens
- Study:nstd54 (Cooper et al. 2011)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,136
- 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: 465 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 465 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 192 SVs from 17 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv534817 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nsv534817 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nsv534817 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1156795 | copy number loss | 9881903 | Oligo aCGH | Probe signal intensity | |
| nssv1156796 | copy number loss | 9882793 | Oligo aCGH | Probe signal intensity | 6 |
| nssv1156797 | copy number gain | 9882951 | Oligo aCGH | Probe signal intensity | |
| nssv1156798 | copy number loss | 9885322 | Oligo aCGH | Probe signal intensity | nssv1159255 |
| nssv1156799 | copy number loss | 9886034 | Oligo aCGH | Probe signal intensity | |
| nssv1156800 | copy number loss | 9886250 | Oligo aCGH | Probe signal intensity | |
| nssv1156801 | copy number loss | 9887424 | Oligo aCGH | Probe signal intensity | |
| nssv1156802 | copy number loss | 9887869 | Oligo aCGH | Probe signal intensity | |
| nssv1156803 | copy number loss | 9888170 | Oligo aCGH | Probe signal intensity | |
| nssv1156804 | copy number gain | 9889866 | Oligo aCGH | Probe signal intensity | |
| nssv1156805 | copy number gain | 9895320 | Oligo aCGH | Probe signal intensity | nssv1161723 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1156795 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156796 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156797 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156798 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156799 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156800 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156801 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156802 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156803 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156804 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156805 | Remapped | Perfect | NC_000001.11:g.(?_ 5053720)_(5113855_ ?)dup | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 5,053,720 | 5,113,855 |
| nssv1156795 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156796 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156797 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156798 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156799 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156800 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156801 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156802 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156803 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156804 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156805 | Remapped | Perfect | NC_000001.10:g.(?_ 5113780)_(5173915_ ?)dup | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 5,113,780 | 5,173,915 |
| nssv1156795 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156796 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156797 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156798 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156799 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156800 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156801 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156802 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156803 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156804 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 | ||
| nssv1156805 | Submitted genomic | NC_000001.9:g.(?_5 013640)_(5073775_? )dup | NCBI36 (hg18) | NC_000001.9 | Chr1 | 5,013,640 | 5,073,775 |