nsv3404037
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:14
- Validation:Not tested
- Clinical Assertions: No
- Region Size:94,900
- Publication(s):Audano et al. 2019
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3404037 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nsv3404037 | Remapped | Pass | GRCh37.p13 | Primary Assembly | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14793573 | duplication | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
| nssv14795658 | duplication | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14797301 | duplication | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14798376 | duplication | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14798659 | duplication | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
| nssv14799236 | duplication | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14799647 | duplication | SAMN05181962 | Sequencing | de novo and local sequence assembly | 23,563 |
| nssv14802771 | duplication | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14803771 | duplication | SAMN06885952 | Sequencing | de novo and local sequence assembly | 28,070 |
| nssv14804343 | duplication | SAMN05603847 | Sequencing | de novo and local sequence assembly | 26,021 |
| nssv14806402 | duplication | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
| nssv14807493 | duplication | SAMN03838746 | Sequencing | de novo and local sequence assembly | 26,336 |
| nssv14808111 | duplication | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14809714 | duplication | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14793573 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14795658 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14797301 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14798376 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14798659 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14799236 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14799647 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14802771 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14803771 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14804343 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14806402 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14807493 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14808111 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14809714 | Submitted genomic | NT_187506.1:g.(557 01_55901)_(150600_ 150742)dup | GRCh38 (hg38) | NT_187506.1 | Unplaced|N T_187506.1 | 55,801 (-100, +100) | 150,700 (-100, +42) | ||
| nssv14793573 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14795658 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14797301 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14798376 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14798659 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14799236 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14799647 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14802771 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14803771 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14804343 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14806402 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14807493 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14808111 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |
| nssv14809714 | Remapped | Pass | NT_167209.1:g.(1_1 01)_(48312_48454)d upNT_167209.1:g.(1 _101)_(48312_48454 )dup | GRCh37.p13 | Second Pass | NT_167209.1 | Unplaced|N T_167209.1 | 1 (-0, +100) | 48,412 (-100, +42) |