nsv4812556
- 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:139,450
- 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: 800 SVs from 82 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 804 SVs from 83 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4812556 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 154,481,265 | 154,620,714 |
| nsv4812556 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 58,914 | 179,932 |
| nsv4812556 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 154,178,350 | 154,412,424 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16343696 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16343696 | Remapped | Pass | NW_012132919.1:g.5 8914_179932del | GRCh38.p12 | Second Pass | NW_012132919.1 | Chr7|NW_01 2132919.1 | 58,914 | 179,932 |
| nssv16343696 | Remapped | Pass | NC_000007.14:g.154 481265_154620714de l | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 154,481,265 | 154,620,714 |
| nssv16343696 | Submitted genomic | NC_000007.13:g.154 178350_154412424de l | GRCh37 (hg19) | NC_000007.13 | Chr7 | 154,178,350 | 154,412,424 |
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) |
|---|---|---|---|
| nssv16343696 | <0.001 | 1 | 16834 |