nsv4758740
- Organism: Homo sapiens
- Study:nstd199 (Quan et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:357
- Publication(s):Quan et al. 2021
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: 206 SVs from 45 studies. See in: genome view
Overlapping variant regions from other studies: 206 SVs from 45 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4758740 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 70,286,839 | 70,287,195 |
nsv4758740 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 70,680,619 | 70,680,975 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16296837 | inversion | Sequencing | Split read mapping |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16296837 | Remapped | Perfect | NC_000012.12:g.702 86839_70287195inv | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 70,286,839 | 70,287,195 |
nssv16296837 | Submitted genomic | NC_000012.11:g.706 80619_70680975inv | GRCh37 (hg19) | NC_000012.11 | Chr12 | 70,680,619 | 70,680,975 |