nsv4790228
- 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:25,086
- 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: 880 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 566 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 566 SVs from 62 studies. See in: genome view
Overlapping variant regions from other studies: 876 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4790228 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,077,483 | 242,102,568 |
| nsv4790228 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 121,193 | 146,278 |
| nsv4790228 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 121,553 | 146,638 |
| nsv4790228 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 243,019,634 | 243,044,719 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16304570 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16304570 | Remapped | Perfect | NT_187647.1:g.1211 93_146278del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 121,193 | 146,278 |
| nssv16304570 | Remapped | Perfect | NT_187523.1:g.1215 53_146638del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 121,553 | 146,638 |
| nssv16304570 | Remapped | Perfect | NC_000002.12:g.242 077483_242102568de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,077,483 | 242,102,568 |
| nssv16304570 | Submitted genomic | NC_000002.11:g.243 019634_243044719de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 243,019,634 | 243,044,719 |
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) |
|---|---|---|---|
| nssv16304570 | <0.001 | 2 | 16834 |