nsv4730263
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:70,500
- Publication(s):Hanlon et al. 2021
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: 389 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 385 SVs from 36 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 8 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730263 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 72,820,119 | 72,890,618 | ||
| nsv4730263 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 72,039,953 | 72,110,442 |
| nsv4730263 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 509,136 | 579,635 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16257209 | inversion | SAMN00001695 | Sequencing | Genotyping | Hemizygous | 368 |
| nssv16256444 | inversion | SAMN00001695 | Sequencing | Genotyping | Hemizygous | 368 |
| nssv16258490 | inversion | SAMN00001695 | Sequencing | Genotyping | Hemizygous | 368 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16257209 | Submitted genomic | NC_000023.11:g.728 20119_72890618inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,820,119 | 72,890,618 | ||
| nssv16256444 | Submitted genomic | NC_000023.11:g.728 55897_72874910inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,855,897 | 72,874,910 | ||
| nssv16258490 | Submitted genomic | NC_000023.11:g.728 55897_72874910inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 72,855,897 | 72,874,910 | ||
| nssv16257209 | Remapped | Perfect | NW_004070882.1:g.5 09136_579635inv | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 509,136 | 579,635 |
| nssv16256444 | Remapped | Perfect | NW_004070882.1:g.5 44914_563927inv | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 544,914 | 563,927 |
| nssv16258490 | Remapped | Perfect | NW_004070882.1:g.5 44914_563927inv | GRCh37.p13 | First Pass | NW_004070882.1 | ChrX|NW_00 4070882.1 | 544,914 | 563,927 |
| nssv16257209 | Remapped | Good | NC_000023.10:g.720 39953_72110442inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 72,039,953 | 72,110,442 |
| nssv16256444 | Remapped | Good | NC_000023.10:g.720 75760_72094744inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 72,075,760 | 72,094,744 |
| nssv16258490 | Remapped | Good | NC_000023.10:g.720 75760_72094744inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 72,075,760 | 72,094,744 |