nsv4859074
- 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:963
- 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: 143 SVs from 22 studies. See in: genome view
Overlapping variant regions from other studies: 15 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 143 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4859074 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 77,250,467 (-2, +45) | 77,251,429 (-47, +2) |
| nsv4859074 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 41,360 (-2, +45) | 42,322 (-47, +2) |
| nsv4859074 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 75,246,549 (-2, +45) | 75,247,511 (-47, +2) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16370243 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16370243 | Remapped | Perfect | NW_003315955.1:g.( 41358_41405)_(4227 5_42324)del | GRCh38.p12 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 41,360 (-2, +45) | 42,322 (-47, +2) |
| nssv16370243 | Remapped | Perfect | NC_000017.11:g.(77 250465_77250512)_( 77251382_77251431) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 77,250,467 (-2, +45) | 77,251,429 (-47, +2) |
| nssv16370243 | Submitted genomic | NC_000017.10:g.(75 246547_75246594)_( 75247464_75247513) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 75,246,549 (-2, +45) | 75,247,511 (-47, +2) |
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) |
|---|---|---|---|
| nssv16370243 | <0.001 | 2 | 16834 |