nsv4781516
- 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:415,208
- 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: 1679 SVs from 85 studies. See in: genome view
Overlapping variant regions from other studies: 588 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 1691 SVs from 85 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4781516 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 235,201,748 | 235,616,955 |
| nsv4781516 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 1 | 212,205 |
| nsv4781516 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 235,365,063 | 235,780,255 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16385357 | duplication | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16385357 | Remapped | Pass | NW_014040927.1:g.1 _212205dup | GRCh38.p12 | Second Pass | NW_014040927.1 | Chr1|NW_01 4040927.1 | 1 | 212,205 |
| nssv16385357 | Remapped | Good | NC_000001.11:g.235 201748_235616955du p | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 235,201,748 | 235,616,955 |
| nssv16385357 | Submitted genomic | NC_000001.10:g.235 365063_235780255du p | GRCh37 (hg19) | NC_000001.10 | Chr1 | 235,365,063 | 235,780,255 |
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) |
|---|---|---|---|
| nssv16385357 | <0.001 | 1 | 16834 |