nsv4859073
- 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:1,176
- 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: 147 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 18 SVs from 11 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 24 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4859073 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 77,250,130 | 77,251,305 (+1) |
| nsv4859073 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 41,023 | 42,198 (+1) |
| nsv4859073 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 75,246,212 | 75,247,387 (+1) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16370242 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16370242 | Remapped | Perfect | NW_003315955.1:g.4 1023_(?_42199)del | GRCh38.p12 | Second Pass | NW_003315955.1 | Chr17|NW_0 03315955.1 | 41,023 | 42,198 (+1) |
| nssv16370242 | Remapped | Perfect | NC_000017.11:g.772 50130_(?_77251306) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 77,250,130 | 77,251,305 (+1) |
| nssv16370242 | Submitted genomic | NC_000017.10:g.752 46212_(?_75247388) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 75,246,212 | 75,247,387 (+1) |
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) |
|---|---|---|---|
| nssv16370242 | <0.001 | 1 | 16834 |