nsv2747107
- Organism: Homo sapiens
- Study:nstd130 (Leppa et al. 2016)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI36 (hg18)
- Variant Calls:22
- Validation:Not tested
- Clinical Assertions: No
- Region Size:66,218
- 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: 2407 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2407 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 1163 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv2747107 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nsv2747107 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nsv2747107 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv13532574 | deletion | SNP array | Probe signal intensity |
| nssv13537501 | deletion | SNP array | Probe signal intensity |
| nssv13538220 | duplication | SNP array | Probe signal intensity |
| nssv13539056 | deletion | SNP array | Probe signal intensity |
| nssv13545620 | duplication | SNP array | Probe signal intensity |
| nssv13546984 | duplication | SNP array | Probe signal intensity |
| nssv13607959 | deletion | SNP array | Probe signal intensity |
| nssv13609622 | duplication | SNP array | Probe signal intensity |
| nssv13611323 | deletion | SNP array | Probe signal intensity |
| nssv13614086 | deletion | SNP array | Probe signal intensity |
| nssv13614817 | deletion | SNP array | Probe signal intensity |
| nssv13615598 | deletion | SNP array | Probe signal intensity |
| nssv13615687 | duplication | SNP array | Probe signal intensity |
| nssv13619542 | deletion | SNP array | Probe signal intensity |
| nssv13621981 | deletion | SNP array | Probe signal intensity |
| nssv13622322 | duplication | SNP array | Probe signal intensity |
| nssv13622331 | deletion | SNP array | Probe signal intensity |
| nssv13624048 | deletion | SNP array | Probe signal intensity |
| nssv13624999 | deletion | SNP array | Probe signal intensity |
| nssv13625260 | duplication | SNP array | Probe signal intensity |
| nssv13625351 | duplication | SNP array | Probe signal intensity |
| nssv13626246 | 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 |
|---|---|---|---|---|---|---|---|---|---|
| nssv13532574 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13537501 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13538220 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13539056 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13545620 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13546984 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13607959 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13609622 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13611323 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13614086 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13614817 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13615598 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13615687 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13619542 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13621981 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13622322 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13622331 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13624048 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13624999 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13625260 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13625351 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)dup | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13626246 | Remapped | Perfect | NC_000006.12:g.(?_ 78255808)_(7832202 5_?)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 78,255,808 | 78,322,025 |
| nssv13532574 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13537501 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13538220 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13539056 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13545620 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13546984 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13607959 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13609622 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13611323 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13614086 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13614817 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13615598 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13615687 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13619542 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13621981 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13622322 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13622331 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13624048 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13624999 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13625260 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13625351 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)dup | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13626246 | Remapped | Perfect | NC_000006.11:g.(?_ 78965525)_(7903174 2_?)del | GRCh37.p13 | First Pass | NC_000006.11 | Chr6 | 78,965,525 | 79,031,742 |
| nssv13532574 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13537501 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13538220 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13539056 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13545620 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13546984 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13607959 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13609622 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13611323 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13614086 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13614817 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13615598 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13615687 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13619542 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13621981 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13622322 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13622331 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13624048 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13624999 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13625260 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13625351 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)dup | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 | ||
| nssv13626246 | Submitted genomic | NC_000006.10:g.(?_ 79022244)_(7908846 1_?)del | NCBI36 (hg18) | NC_000006.10 | Chr6 | 79,022,244 | 79,088,461 |