nsv3185451
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,549
- Description:Absence of a Alu.Moasic mobile element insertion that is present in the reference
- Publication(s):Chaisson et al. 2019
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: 428 SVs from 58 studies. See in: genome view
Overlapping variant regions from other studies: 428 SVs from 58 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3185451 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 152,877,682 | 152,883,230 | ||
nsv3185451 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 152,574,767 | 152,580,315 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14437668 | Submitted genomic | NC_000007.14:g.152 877682_152883230de l5548 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 152,877,682 | 152,883,230 | ||
nssv14437668 | Remapped | Perfect | NC_000007.13:g.152 574767_152580315de l5548 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 152,574,767 | 152,580,315 |