nsv2739819
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:52,345
- 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: 2327 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 2327 SVs from 95 studies. See in: genome view
Overlapping variant regions from other studies: 1135 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2739819 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nsv2739819 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nsv2739819 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13608412 | deletion | SNP array | Probe signal intensity |
| nssv13609297 | deletion | SNP array | Probe signal intensity |
| nssv13609634 | deletion | SNP array | Probe signal intensity |
| nssv13611835 | deletion | SNP array | Probe signal intensity |
| nssv13611910 | deletion | SNP array | Probe signal intensity |
| nssv13612497 | deletion | SNP array | Probe signal intensity |
| nssv13617844 | duplication | SNP array | Probe signal intensity |
| nssv13619575 | deletion | SNP array | Probe signal intensity |
| nssv13621401 | deletion | SNP array | Probe signal intensity |
| nssv13622922 | deletion | SNP array | Probe signal intensity |
| nssv13624537 | deletion | SNP array | Probe signal intensity |
| nssv13625651 | deletion | SNP array | Probe signal intensity |
| nssv13626585 | deletion | SNP array | Probe signal intensity |
| nssv13627765 | deletion | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13608412 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13609297 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13609634 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13611835 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13611910 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13612497 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13617844 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13619575 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13621401 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13622922 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13624537 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13625651 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13626585 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13627765 | Remapped | Perfect | NC_000006.12:g.(?_ 78269681)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,269,681 | 78,322,025 |
| nssv13608412 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13609297 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13609634 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13611835 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13611910 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13612497 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13617844 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13619575 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13621401 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13622922 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13624537 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13625651 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13626585 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13627765 | Remapped | Perfect | NC_000006.11:g.(?_ 78979398)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,979,398 | 79,031,742 |
| nssv13608412 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13609297 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13609634 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13611835 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13611910 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13612497 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13617844 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13619575 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13621401 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13622922 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13624537 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13625651 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13626585 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 | ||
| nssv13627765 | Submitted genomic | NC_000006.10:g.(?_ 79036117)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,036,117 | 79,088,461 |