nsv4821100
- 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:2,593
- 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: 362 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 176 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 362 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4821100 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 11,634,799 (-1, +1) | 11,637,391 (-3, +3) |
| nsv4821100 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,710,643 (-1, +1) | 1,713,235 (-3, +3) |
| nsv4821100 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 11,492,308 (-1, +1) | 11,494,900 (-3, +3) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16345735 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16345735 | Remapped | Perfect | NW_018654717.1:g.( 1710642_1710644)_( 1713232_1713238)de l | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,710,643 (-1, +1) | 1,713,235 (-3, +3) |
| nssv16345735 | Remapped | Perfect | NC_000008.11:g.(11 634798_11634800)_( 11637388_11637394) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,634,799 (-1, +1) | 11,637,391 (-3, +3) |
| nssv16345735 | Submitted genomic | NC_000008.10:g.(11 492307_11492309)_( 11494897_11494903) del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,492,308 (-1, +1) | 11,494,900 (-3, +3) |
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) |
|---|---|---|---|
| nssv16345735 | 0.061 | 1033 | 16834 |