nsv4846950
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:3,697
- Publication(s):Abel 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: 109 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4846950 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 74,916,100 | 74,919,796 |
| nsv4846950 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 120,776 | 124,472 |
| nsv4846950 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 76,675,858 | 76,679,554 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16355542 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16355542 | Remapped | Perfect | NW_009646202.1:g.1 20776_124472del | GRCh38.p12 | Second Pass | NW_009646202.1 | Chr10|NW_0 09646202.1 | 120,776 | 124,472 |
| nssv16355542 | Remapped | Perfect | NC_000010.11:g.749 16100_74919796del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 74,916,100 | 74,919,796 |
| nssv16355542 | Submitted genomic | NC_000010.10:g.766 75858_76679554del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 76,675,858 | 76,679,554 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16355542 | <0.001 | 3 | 16834 |