nsv3564736
- Organism: Homo sapiens
- Study:nstd152 (Chaisson et al. 2019)
- Variant Type:mobile element insertion
- Method Type:Sequencing
- Submitted on:GRCh38 (hg38)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:Insertion of a SVA 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: 242 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 242 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 |
---|---|---|---|---|---|---|---|---|---|
nsv3564736 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 154,493,531 (-15, +15) | 154,493,531 (-15, +15) | ||
nsv3564736 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 154,190,616 (-15, +15) | 154,190,616 (-15, +15) |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv14338022 | sva insertion | SAMN00006580 | Sequencing | Sequence alignment | Heterozygous | 14,212 |
nssv14338023 | sva insertion | SAMN00006581 | Sequencing | Sequence alignment | Heterozygous | 41,185 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv14338022 | Submitted genomic | NC_000007.14:g.(15 4493516_154493546) _(154493516_154493 546)ins1240 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 154,493,531 (-15, +15) | 154,493,531 (-15, +15) | ||
nssv14338023 | Submitted genomic | NC_000007.14:g.(15 4493516_154493546) _(154493516_154493 546)ins1240 | GRCh38 (hg38) | NC_000007.14 | Chr7 | 154,493,531 (-15, +15) | 154,493,531 (-15, +15) | ||
nssv14338022 | Remapped | Perfect | NC_000007.13:g.(15 4190601_154190631) _(154190601_154190 631)ins1240 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 154,190,616 (-15, +15) | 154,190,616 (-15, +15) |
nssv14338023 | Remapped | Perfect | NC_000007.13:g.(15 4190601_154190631) _(154190601_154190 631)ins1240 | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 154,190,616 (-15, +15) | 154,190,616 (-15, +15) |