nsv3565933
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a Alu 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: 440 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 440 SVs from 38 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv3565933 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 107,570,257 (-15, +15) | 107,570,257 (-15, +15) | ||
nsv3565933 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 106,813,487 (-15, +15) | 106,813,487 (-15, +15) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14353849 | alu insertion | SAMN00006466 | Sequencing | Sequence alignment | Heterozygous | 14,137 |
nssv14353850 | alu insertion | HG00514 | Sequencing | Sequence alignment | Heterozygous | 39,861 |
nssv14353851 | alu insertion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
nssv14353852 | alu insertion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
nssv14353853 | alu 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 |
---|---|---|---|---|---|---|---|---|---|
nssv14353849 | Submitted genomic | NC_000023.11:g.(10 7570242_107570272) _(107570242_107570 272)ins281 | GRCh38 (hg38) | NC_000023.11 | ChrX | 107,570,257 (-15, +15) | 107,570,257 (-15, +15) | ||
nssv14353850 | Submitted genomic | NC_000023.11:g.(10 7570242_107570272) _(107570242_107570 272)ins281 | GRCh38 (hg38) | NC_000023.11 | ChrX | 107,570,257 (-15, +15) | 107,570,257 (-15, +15) | ||
nssv14353851 | Submitted genomic | NC_000023.11:g.(10 7570242_107570272) _(107570242_107570 272)ins281 | GRCh38 (hg38) | NC_000023.11 | ChrX | 107,570,257 (-15, +15) | 107,570,257 (-15, +15) | ||
nssv14353852 | Submitted genomic | NC_000023.11:g.(10 7570242_107570272) _(107570242_107570 272)ins281 | GRCh38 (hg38) | NC_000023.11 | ChrX | 107,570,257 (-15, +15) | 107,570,257 (-15, +15) | ||
nssv14353853 | Submitted genomic | NC_000023.11:g.(10 7570242_107570272) _(107570242_107570 272)ins281 | GRCh38 (hg38) | NC_000023.11 | ChrX | 107,570,257 (-15, +15) | 107,570,257 (-15, +15) | ||
nssv14353849 | Remapped | Perfect | NC_000023.10:g.(10 6813472_106813502) _(106813472_106813 502)ins281 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 106,813,487 (-15, +15) | 106,813,487 (-15, +15) |
nssv14353850 | Remapped | Perfect | NC_000023.10:g.(10 6813472_106813502) _(106813472_106813 502)ins281 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 106,813,487 (-15, +15) | 106,813,487 (-15, +15) |
nssv14353851 | Remapped | Perfect | NC_000023.10:g.(10 6813472_106813502) _(106813472_106813 502)ins281 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 106,813,487 (-15, +15) | 106,813,487 (-15, +15) |
nssv14353852 | Remapped | Perfect | NC_000023.10:g.(10 6813472_106813502) _(106813472_106813 502)ins281 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 106,813,487 (-15, +15) | 106,813,487 (-15, +15) |
nssv14353853 | Remapped | Perfect | NC_000023.10:g.(10 6813472_106813502) _(106813472_106813 502)ins281 | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 106,813,487 (-15, +15) | 106,813,487 (-15, +15) |