nsv3564878
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a L1 mobile element relative to 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: 121 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 121 SVs from 30 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3564878 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 26,755,299 (-15, +15) | 26,755,299 (-15, +15) | ||
nsv3564878 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 26,794,918 (-15, +15) | 26,794,918 (-15, +15) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14333855 | line1 insertion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14333855 | Submitted genomic | NC_000007.14:g.(26 755284_26755314)_( 26755284_26755314) ins1977 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 26,755,299 (-15, +15) | 26,755,299 (-15, +15) | ||
nssv14333855 | Remapped | Perfect | NC_000007.13:g.(26 794903_26794933)_( 26794903_26794933) ins1977 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 26,794,918 (-15, +15) | 26,794,918 (-15, +15) |