nsv4790226
- 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:6,950
- 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: 1070 SVs from 74 studies. See in: genome view
Overlapping variant regions from other studies: 660 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 660 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 1070 SVs from 74 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4790226 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 242,053,561 | 242,060,510 |
| nsv4790226 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 97,271 | 104,220 |
| nsv4790226 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 97,631 | 104,580 |
| nsv4790226 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 242,995,712 | 243,002,661 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16304568 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16304568 | Remapped | Perfect | NT_187647.1:g.9727 1_104220del | GRCh38.p12 | Second Pass | NT_187647.1 | Chr2|NT_18 7647.1 | 97,271 | 104,220 |
| nssv16304568 | Remapped | Perfect | NT_187523.1:g.9763 1_104580del | GRCh38.p12 | Second Pass | NT_187523.1 | Chr2|NT_18 7523.1 | 97,631 | 104,580 |
| nssv16304568 | Remapped | Perfect | NC_000002.12:g.242 053561_242060510de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 242,053,561 | 242,060,510 |
| nssv16304568 | Submitted genomic | NC_000002.11:g.242 995712_243002661de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 242,995,712 | 243,002,661 |
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) |
|---|---|---|---|
| nssv16304568 | <0.001 | 1 | 16826 |