nsv3347503
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:60,200
- Publication(s):Audano et al. 2019
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: 3 SVs from 3 studies. See in: genome view
Overlapping variant regions from other studies: 1558 SVs from 87 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3347503 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nsv3347503 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14572115 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14572245 | duplication | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14572916 | duplication | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14573822 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14574816 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14575775 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14577070 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14577320 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14578511 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14579896 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14588753 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14588796 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14588883 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14572115 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14572245 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14572916 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14573822 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14574816 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14575775 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14577070 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14577320 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14578511 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14579896 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14588753 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14588796 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14588883 | Submitted genomic | NT_187383.1:g.(104 4001_1044201)_(110 4200_1104400)dup | GRCh38 (hg38) | NT_187383.1 | Chr16|NT_1 87383.1 | 1,044,101 (-100, +100) | 1,104,300 (-100, +100) | ||
| nssv14572115 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14572245 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14572916 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14573822 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14574816 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14575775 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14577070 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14577320 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14578511 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14579896 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14588753 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14588796 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |
| nssv14588883 | Remapped | Pass | NC_000016.9:g.(328 06592_32806792)_(3 2853408_32853608)d upNC_000016.9:g.(3 2806592_32806792)_ (32853408_32853608 )dup | GRCh37.p13 | Second Pass | NC_000016.9 | Chr16 | 32,806,692 (-100, +100) | 32,853,508 (-100, +100) |