nsv4966588
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:681
- 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: 398 SVs from 40 studies. See in: genome view
Overlapping variant regions from other studies: 366 SVs from 34 studies. See in: genome view
Overlapping variant regions from other studies: 134 SVs from 22 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4966588 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 74,241,026 | 74,241,706 | ||
| nsv4966588 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 73,655,356 | 73,656,036 |
| nsv4966588 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,770,262 | 1,770,942 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16491060 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16491060 | Submitted genomic | NC_000007.14:g.742 41026_74241706del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 74,241,026 | 74,241,706 | ||
| nssv16491060 | Remapped | Perfect | NW_003871064.1:g.1 770262_1770942del | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 1,770,262 | 1,770,942 |
| nssv16491060 | Remapped | Perfect | NC_000007.13:g.736 55356_73656036del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 73,655,356 | 73,656,036 |
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) |
|---|---|---|---|
| nssv16491060 | <0.001 | 5 | 29246 |