nsv4812559
- 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:1,398
- 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: 246 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 21 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 246 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4812559 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 154,569,108 (-1, +1) | 154,570,505 |
| nsv4812559 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 146,757 (-1, +1) | 148,154 |
| nsv4812559 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 154,266,193 (-1, +1) | 154,267,590 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16343699 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16343699 | Remapped | Perfect | NW_012132919.1:g.( 146756_146758)_148 154del | GRCh38.p12 | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 146,757 (-1, +1) | 148,154 |
| nssv16343699 | Remapped | Perfect | NC_000007.14:g.(15 4569107_154569109) _154570505del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 154,569,108 (-1, +1) | 154,570,505 |
| nssv16343699 | Submitted genomic | NC_000007.13:g.(15 4266192_154266194) _154267590del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 154,266,193 (-1, +1) | 154,267,590 |
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) |
|---|---|---|---|
| nssv16343699 | 0.01 | 167 | 16834 |