nsv4657993
- Organism: Homo sapiens
- Study:nstd185 (Puig et al. 2020)
- Variant Type:inversion
- Method Type:ddPCR
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:59,996
- Publication(s):Puig et al. 2020
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: 687 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 689 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 91 SVs from 28 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4657993 | Submitted genomic | GRCh38.p13 | Primary Assembly | NC_000023.11 | ChrX | 103,989,434 | 104,049,429 | ||
| nsv4657993 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 103,244,008 | 103,303,997 |
| nsv4657993 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 125,850 | 185,845 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16181396 | inversion | ddPCR | Other |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16181396 | Submitted genomic | NC_000023.11:g.(?_ 103989434)_(104049 429_?)inv | GRCh38.p13 | NC_000023.11 | ChrX | 103,989,434 | 104,049,429 | ||
| nssv16181396 | Remapped | Perfect | NW_004070885.1:g.( ?_125850)_(185845_ ?)inv | GRCh37.p13 | First Pass | NW_004070885.1 | ChrX|NW_00 4070885.1 | 125,850 | 185,845 |
| nssv16181396 | Remapped | Good | NC_000023.10:g.(?_ 103244008)_(103303 997_?)inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 103,244,008 | 103,303,997 |