nsv4950100
- 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:4,149
- 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 55 studies. See in: genome view
Overlapping variant regions from other studies: 241 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 101 SVs from 28 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4950100 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 75,764,158 (-11, +30) | 75,768,306 (-19, +19) | ||
| nsv4950100 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000007.13 | Chr7 | 75,393,476 (-11, +30) | 75,397,624 (-19, +19) |
| nsv4950100 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,293,394 (-11, +30) | 3,297,542 (-19, +19) |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16491498 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16491498 | Submitted genomic | NC_000007.14:g.(75 764147_75764188)_( 75768287_75768325) del | GRCh38 (hg38) | NC_000007.14 | Chr7 | 75,764,158 (-11, +30) | 75,768,306 (-19, +19) | ||
| nssv16491498 | Remapped | Perfect | NW_003871064.1:g.( 3293383_3293424)_( 3297523_3297561)de l | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 3,293,394 (-11, +30) | 3,297,542 (-19, +19) |
| nssv16491498 | Remapped | Perfect | NC_000007.13:g.(75 393465_75393506)_( 75397605_75397643) del | GRCh37.p13 | Second Pass | NC_000007.13 | Chr7 | 75,393,476 (-11, +30) | 75,397,624 (-19, +19) |
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) |
|---|---|---|---|
| nssv16491498 | <0.001 | 6 | 29246 |