nsv3400361
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:11,361
- 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: 398 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 395 SVs from 37 studies. See in: genome view
Overlapping variant regions from other studies: 28 SVs from 13 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv3400361 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nsv3400361 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nsv3400361 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv14793683 | inversion | SAMN04229548 | Sequencing | de novo and local sequence assembly | 23,009 |
| nssv14797119 | inversion | SAMN03255769 | Sequencing | de novo and local sequence assembly | 21,134 |
| nssv14797594 | inversion | SAMN09651199 | Sequencing | de novo and local sequence assembly | 27,381 |
| nssv14801270 | inversion | SAMN09690649 | Sequencing | de novo and local sequence assembly | 21,495 |
| nssv14801513 | inversion | SAMN02744161 | Sequencing | de novo and local sequence assembly | 20,941 |
| nssv14802018 | inversion | SAMN05603729 | Sequencing | de novo and local sequence assembly | 24,108 |
| nssv14803144 | inversion | SAMN05603745 | Sequencing | de novo and local sequence assembly | 27,447 |
| nssv14808443 | inversion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv14793683 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv14797119 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv14797594 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv14801270 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv14801513 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv14802018 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv14803144 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv14808443 | Submitted genomic | NC_000023.11:g.761 41880_76153240inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 76,141,880 | 76,153,240 | ||
| nssv14793683 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660invNW_ 003871100.1:g.1613 00_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv14797119 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660invNW_ 003871100.1:g.1613 00_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv14797594 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660invNW_ 003871100.1:g.1613 00_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv14801270 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660invNW_ 003871100.1:g.1613 00_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv14801513 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660invNW_ 003871100.1:g.1613 00_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv14802018 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660invNW_ 003871100.1:g.1613 00_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv14803144 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660invNW_ 003871100.1:g.1613 00_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv14808443 | Remapped | Perfect | NW_003871100.1:g.1 61300_172660invNW_ 003871100.1:g.1613 00_172660inv | GRCh37.p13 | First Pass | NW_003871100.1 | ChrX|NW_00 3871100.1 | 161,300 | 172,660 |
| nssv14793683 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075invN C_000023.10:g.7536 1715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nssv14797119 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075invN C_000023.10:g.7536 1715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nssv14797594 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075invN C_000023.10:g.7536 1715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nssv14801270 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075invN C_000023.10:g.7536 1715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nssv14801513 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075invN C_000023.10:g.7536 1715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nssv14802018 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075invN C_000023.10:g.7536 1715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nssv14803144 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075invN C_000023.10:g.7536 1715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |
| nssv14808443 | Remapped | Perfect | NC_000023.10:g.753 61715_75373075invN C_000023.10:g.7536 1715_75373075inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 75,361,715 | 75,373,075 |