nsv5664740
- Organism: Homo sapiens
- Study:nstd207 (Ebert et al. 2021)
- Variant Type:inversion
- Method Type:Optical mapping, Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:85,180
- Publication(s):Ebert 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: 1145 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 1145 SVs from 83 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5664740 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 144,221,521 | 144,306,700 | ||
nsv5664740 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000007.13 | Chr7 | 143,918,614 | 144,003,793 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv17148814 | inversion | Optical mapping, Sequencing | Optical mapping, Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv17148814 | Submitted genomic | NC_000007.14:g.144 221521_144306700in v | GRCh38 (hg38) | NC_000007.14 | Chr7 | 144,221,521 | 144,306,700 | ||
nssv17148814 | Remapped | Perfect | NC_000007.13:g.143 918614_144003793in v | GRCh37.p13 | First Pass | NC_000007.13 | Chr7 | 143,918,614 | 144,003,793 |