nsv3565474
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:8
- 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: 419 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 419 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3565474 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000008.11 | Chr8 | 5,971,760 (-15, +15) | 5,971,760 (-15, +15) | ||
nsv3565474 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 5,829,282 (-15, +15) | 5,829,282 (-15, +15) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14340641 | line1 insertion | HG00512 | Sequencing | Sequence alignment | Heterozygous | 13,827 |
nssv14340642 | line1 insertion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
nssv14340643 | line1 insertion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14340644 | line1 insertion | SAMN00006579 | Sequencing | Sequence alignment | Heterozygous | 13,953 |
nssv14340645 | line1 insertion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
nssv14340646 | line1 insertion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
nssv14340647 | line1 insertion | SAMN00001694 | Sequencing | Sequence alignment | Heterozygous | 16,419 |
nssv14340648 | line1 insertion | SAMN00001696 | Sequencing | Sequence alignment | Heterozygous | 45,591 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14340641 | Submitted genomic | NC_000008.11:g.(59 71745_5971775)_(59 71745_5971775)ins5 96 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 5,971,760 (-15, +15) | 5,971,760 (-15, +15) | ||
nssv14340642 | Submitted genomic | NC_000008.11:g.(59 71745_5971775)_(59 71745_5971775)ins5 96 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 5,971,760 (-15, +15) | 5,971,760 (-15, +15) | ||
nssv14340643 | Submitted genomic | NC_000008.11:g.(59 71745_5971775)_(59 71745_5971775)ins5 96 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 5,971,760 (-15, +15) | 5,971,760 (-15, +15) | ||
nssv14340644 | Submitted genomic | NC_000008.11:g.(59 71745_5971775)_(59 71745_5971775)ins5 96 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 5,971,760 (-15, +15) | 5,971,760 (-15, +15) | ||
nssv14340645 | Submitted genomic | NC_000008.11:g.(59 71745_5971775)_(59 71745_5971775)ins5 96 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 5,971,760 (-15, +15) | 5,971,760 (-15, +15) | ||
nssv14340646 | Submitted genomic | NC_000008.11:g.(59 71745_5971775)_(59 71745_5971775)ins5 96 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 5,971,760 (-15, +15) | 5,971,760 (-15, +15) | ||
nssv14340647 | Submitted genomic | NC_000008.11:g.(59 71745_5971775)_(59 71745_5971775)ins5 96 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 5,971,760 (-15, +15) | 5,971,760 (-15, +15) | ||
nssv14340648 | Submitted genomic | NC_000008.11:g.(59 71745_5971775)_(59 71745_5971775)ins5 96 | GRCh38 (hg38) | NC_000008.11 | Chr8 | 5,971,760 (-15, +15) | 5,971,760 (-15, +15) | ||
nssv14340641 | Remapped | Perfect | NC_000008.10:g.(58 29267_5829297)_(58 29267_5829297)ins5 96 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 5,829,282 (-15, +15) | 5,829,282 (-15, +15) |
nssv14340642 | Remapped | Perfect | NC_000008.10:g.(58 29267_5829297)_(58 29267_5829297)ins5 96 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 5,829,282 (-15, +15) | 5,829,282 (-15, +15) |
nssv14340643 | Remapped | Perfect | NC_000008.10:g.(58 29267_5829297)_(58 29267_5829297)ins5 96 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 5,829,282 (-15, +15) | 5,829,282 (-15, +15) |
nssv14340644 | Remapped | Perfect | NC_000008.10:g.(58 29267_5829297)_(58 29267_5829297)ins5 96 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 5,829,282 (-15, +15) | 5,829,282 (-15, +15) |
nssv14340645 | Remapped | Perfect | NC_000008.10:g.(58 29267_5829297)_(58 29267_5829297)ins5 96 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 5,829,282 (-15, +15) | 5,829,282 (-15, +15) |
nssv14340646 | Remapped | Perfect | NC_000008.10:g.(58 29267_5829297)_(58 29267_5829297)ins5 96 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 5,829,282 (-15, +15) | 5,829,282 (-15, +15) |
nssv14340647 | Remapped | Perfect | NC_000008.10:g.(58 29267_5829297)_(58 29267_5829297)ins5 96 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 5,829,282 (-15, +15) | 5,829,282 (-15, +15) |
nssv14340648 | Remapped | Perfect | NC_000008.10:g.(58 29267_5829297)_(58 29267_5829297)ins5 96 | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 5,829,282 (-15, +15) | 5,829,282 (-15, +15) |