nsv1046768
- Organism: Homo sapiens
- Study:nstd100 (Coe et al. 2014)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:6
- Validation:Not tested
- Clinical Assertions: No
- Region Size:177,963
- 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: 3003 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 2746 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 1547 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 1391 SVs from 29 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv1046768 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,436,746 | 106,614,708 |
| nsv1046768 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000014.8 | Chr14 | 106,892,656 | 107,070,719 |
| nsv1046768 | Remapped | Good | GRCh37.p13 | PATCHES | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,099,913 | 1,277,875 |
| nsv1046768 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000014.7 | Chr14 | 105,963,701 | 106,141,764 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv3465504 | copy number loss | 9863741 | Oligo aCGH | Probe signal intensity | |
| nssv3466252 | copy number gain | 9880893 | Oligo aCGH | Probe signal intensity | nssv3469586 |
| nssv3467590 | copy number gain | 9872893 | Oligo aCGH | Probe signal intensity | nssv3473776, nssv3444673 |
| nssv3474414 | copy number gain | 9874993 | Oligo aCGH | Probe signal intensity | |
| nssv3475056 | copy number gain | 9864623 | Oligo aCGH | Probe signal intensity | nssv3449945, nssv3446667, nssv3477904 |
| nssv3481337 | copy number loss | 9888700 | Oligo aCGH | Probe signal intensity | nssv3450744 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv3465504 | Remapped | Good | NC_000014.9:g.(?_1 06436746)_(1066147 08_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,436,746 | 106,614,708 |
| nssv3466252 | Remapped | Good | NC_000014.9:g.(?_1 06436746)_(1066147 08_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,436,746 | 106,614,708 |
| nssv3467590 | Remapped | Good | NC_000014.9:g.(?_1 06436746)_(1066147 08_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,436,746 | 106,614,708 |
| nssv3474414 | Remapped | Good | NC_000014.9:g.(?_1 06436746)_(1066147 08_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,436,746 | 106,614,708 |
| nssv3475056 | Remapped | Good | NC_000014.9:g.(?_1 06436746)_(1066147 08_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,436,746 | 106,614,708 |
| nssv3481337 | Remapped | Good | NC_000014.9:g.(?_1 06436746)_(1066147 08_?)del | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,436,746 | 106,614,708 |
| nssv3465504 | Remapped | Good | NW_004166863.1:g.( ?_1099913)_(127787 5_?)del | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,099,913 | 1,277,875 |
| nssv3466252 | Remapped | Good | NW_004166863.1:g.( ?_1099913)_(127787 5_?)dup | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,099,913 | 1,277,875 |
| nssv3467590 | Remapped | Good | NW_004166863.1:g.( ?_1099913)_(127787 5_?)dup | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,099,913 | 1,277,875 |
| nssv3474414 | Remapped | Good | NW_004166863.1:g.( ?_1099913)_(127787 5_?)dup | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,099,913 | 1,277,875 |
| nssv3475056 | Remapped | Good | NW_004166863.1:g.( ?_1099913)_(127787 5_?)dup | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,099,913 | 1,277,875 |
| nssv3481337 | Remapped | Good | NW_004166863.1:g.( ?_1099913)_(127787 5_?)del | GRCh37.p13 | Second Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 1,099,913 | 1,277,875 |
| nssv3465504 | Remapped | Perfect | NC_000014.8:g.(?_1 06892656)_(1070707 19_?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,892,656 | 107,070,719 |
| nssv3466252 | Remapped | Perfect | NC_000014.8:g.(?_1 06892656)_(1070707 19_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,892,656 | 107,070,719 |
| nssv3467590 | Remapped | Perfect | NC_000014.8:g.(?_1 06892656)_(1070707 19_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,892,656 | 107,070,719 |
| nssv3474414 | Remapped | Perfect | NC_000014.8:g.(?_1 06892656)_(1070707 19_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,892,656 | 107,070,719 |
| nssv3475056 | Remapped | Perfect | NC_000014.8:g.(?_1 06892656)_(1070707 19_?)dup | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,892,656 | 107,070,719 |
| nssv3481337 | Remapped | Perfect | NC_000014.8:g.(?_1 06892656)_(1070707 19_?)del | GRCh37.p13 | First Pass | NC_000014.8 | Chr14 | 106,892,656 | 107,070,719 |
| nssv3465504 | Submitted genomic | NC_000014.7:g.(?_1 05963701)_(1061417 64_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,963,701 | 106,141,764 | ||
| nssv3466252 | Submitted genomic | NC_000014.7:g.(?_1 05963701)_(1061417 64_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,963,701 | 106,141,764 | ||
| nssv3467590 | Submitted genomic | NC_000014.7:g.(?_1 05963701)_(1061417 64_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,963,701 | 106,141,764 | ||
| nssv3474414 | Submitted genomic | NC_000014.7:g.(?_1 05963701)_(1061417 64_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,963,701 | 106,141,764 | ||
| nssv3475056 | Submitted genomic | NC_000014.7:g.(?_1 05963701)_(1061417 64_?)dup | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,963,701 | 106,141,764 | ||
| nssv3481337 | Submitted genomic | NC_000014.7:g.(?_1 05963701)_(1061417 64_?)del | NCBI36 (hg18) | NC_000014.7 | Chr14 | 105,963,701 | 106,141,764 |