nsv4578236
- Organism: Homo sapiens
- Study:nstd180 (Levchenko et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:81
- Publication(s):Levchenko 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: 255 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 249 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 5 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4578236 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 114,906,768 | 114,906,848 | ||
| nsv4578236 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000023.10 | ChrX | 114,141,331 | 114,141,411 |
| nsv4578236 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070891.1 | ChrX|NW_00 4070891.1 | 575,570 | 575,650 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity |
|---|---|---|---|---|---|
| nssv16091660 | deletion | d128 | Sequencing | Sequence alignment | Hemizygous |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16091660 | Submitted genomic | NC_000023.11:g.114 906768_114906848de l81 | GRCh38 (hg38) | NC_000023.11 | ChrX | 114,906,768 | 114,906,848 | ||
| nssv16091660 | Remapped | Perfect | NW_004070891.1:g.5 75570_575650del81 | GRCh37.p13 | First Pass | NW_004070891.1 | ChrX|NW_00 4070891.1 | 575,570 | 575,650 |
| nssv16091660 | Remapped | Perfect | NC_000023.10:g.114 141331_114141411de l81 | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 114,141,331 | 114,141,411 |