nsv3360361
- Organism: Homo sapiens
- Study:nstd162 (Audano et al. 2019)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:3
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,256
- Description:Absence of a L1 insertion that is present in the reference
- Publication(s):Audano 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: 198 SVs from 44 studies. See in: genome view
Overlapping variant regions from other studies: 198 SVs from 44 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3360361 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 166,988,444 | 166,994,699 | ||
nsv3360361 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 167,844,954 | 167,851,209 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv14752159 | line1 deletion | SAMN04251426 | Sequencing | de novo and local sequence assembly | 22,074 |
nssv14762710 | line1 deletion | SAMN09643900 | Sequencing | de novo and local sequence assembly | 26,631 |
nssv14768396 | line1 deletion | SAMN04229552 | Sequencing | de novo and local sequence assembly | 24,632 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14752159 | Submitted genomic | NC_000002.12:g.166 988444_166994699de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 166,988,444 | 166,994,699 | ||
nssv14762710 | Submitted genomic | NC_000002.12:g.166 988444_166994699de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 166,988,444 | 166,994,699 | ||
nssv14768396 | Submitted genomic | NC_000002.12:g.166 988444_166994699de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 166,988,444 | 166,994,699 | ||
nssv14752159 | Remapped | Perfect | NC_000002.11:g.167 844954_167851209de lNC_000002.11:g.16 7844954_167851209d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 167,844,954 | 167,851,209 |
nssv14762710 | Remapped | Perfect | NC_000002.11:g.167 844954_167851209de lNC_000002.11:g.16 7844954_167851209d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 167,844,954 | 167,851,209 |
nssv14768396 | Remapped | Perfect | NC_000002.11:g.167 844954_167851209de lNC_000002.11:g.16 7844954_167851209d el | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 167,844,954 | 167,851,209 |