nsv4865271
- 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:116,619
- 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: 691 SVs from 67 studies. See in: genome view
Overlapping variant regions from other studies: 692 SVs from 67 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4865271 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000019.10 | Chr19 | 50,948,824 | 51,065,442 |
| nsv4865271 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000019.9 | Chr19 | 51,452,080 | 51,568,699 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16388354 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16388354 | Remapped | Good | NC_000019.10:g.509 48824_51065442dup | GRCh38.p12 | First Pass | NC_000019.10 | Chr19 | 50,948,824 | 51,065,442 |
| nssv16388354 | Submitted genomic | NC_000019.9:g.5145 2080_51568699dup | GRCh37 (hg19) | NC_000019.9 | Chr19 | 51,452,080 | 51,568,699 |
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) |
|---|---|---|---|
| nssv16388354 | <0.001 | 1 | 16834 |