nsv2729749
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:11
- Validation:Not tested
- Clinical Assertions: No
- Region Size:54,895
- Publication(s):Leppa et al. 2016
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: 2342 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2342 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1142 SVs from 32 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2729749 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nsv2729749 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nsv2729749 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13530764 | deletion | SNP array | Probe signal intensity |
| nssv13531470 | duplication | SNP array | Probe signal intensity |
| nssv13533016 | duplication | SNP array | Probe signal intensity |
| nssv13534967 | duplication | SNP array | Probe signal intensity |
| nssv13535543 | deletion | SNP array | Probe signal intensity |
| nssv13537793 | duplication | SNP array | Probe signal intensity |
| nssv13542325 | duplication | SNP array | Probe signal intensity |
| nssv13542669 | deletion | SNP array | Probe signal intensity |
| nssv13543093 | duplication | SNP array | Probe signal intensity |
| nssv13543593 | deletion | SNP array | Probe signal intensity |
| nssv13547044 | duplication | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13530764 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13531470 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13533016 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13534967 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13535543 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13537793 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13542325 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13542669 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13543093 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13543593 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13547044 | Remapped | Perfect | NC_000006.12:g.(?_ 78267131)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,267,131 | 78,322,025 |
| nssv13530764 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13531470 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13533016 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13534967 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13535543 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13537793 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13542325 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13542669 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13543093 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13543593 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13547044 | Remapped | Perfect | NC_000006.11:g.(?_ 78976848)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,976,848 | 79,031,742 |
| nssv13530764 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13531470 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13533016 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13534967 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13535543 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13537793 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13542325 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13542669 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13543093 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13543593 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 | ||
| nssv13547044 | Submitted genomic | NC_000006.10:g.(?_ 79033567)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,033,567 | 79,088,461 |