nsv4800131
- 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:10,447
- 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: 231 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 231 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4800131 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 70,108,063 | 70,118,509 |
| nsv4800131 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 152,649 | 163,095 |
| nsv4800131 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 70,973,780 | 70,984,226 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16322487 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16322487 | Remapped | Perfect | NW_013171801.1:g.1 52649_163095del | GRCh38.p12 | Second Pass | NW_013171801.1 | Chr4|NW_01 3171801.1 | 152,649 | 163,095 |
| nssv16322487 | Remapped | Perfect | NC_000004.12:g.701 08063_70118509del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 70,108,063 | 70,118,509 |
| nssv16322487 | Submitted genomic | NC_000004.11:g.709 73780_70984226del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 70,973,780 | 70,984,226 |
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) |
|---|---|---|---|
| nssv16322487 | 0.005 | 81 | 16834 |