nsv4730245
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:43,662
- Publication(s):Hanlon 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: 349 SVs from 77 studies. See in: genome view
Overlapping variant regions from other studies: 349 SVs from 77 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730245 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000016.10 | Chr16 | 20,490,767 | 20,534,428 | ||
| nsv4730245 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000016.9 | Chr16 | 20,502,089 | 20,545,750 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256125 | inversion | SAMN00006579 | Sequencing | Genotyping | Heterozygous | 303 |
| nssv16258008 | inversion | SAMN00006579 | Sequencing | Genotyping | Heterozygous | 303 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256125 | Submitted genomic | NC_000016.10:g.204 90767_20534428inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 20,490,767 | 20,534,428 | ||
| nssv16258008 | Submitted genomic | NC_000016.10:g.204 98220_20527617inv | GRCh38 (hg38) | NC_000016.10 | Chr16 | 20,498,220 | 20,527,617 | ||
| nssv16256125 | Remapped | Perfect | NC_000016.9:g.2050 2089_20545750inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 20,502,089 | 20,545,750 |
| nssv16258008 | Remapped | Perfect | NC_000016.9:g.2050 9542_20538939inv | GRCh37.p13 | First Pass | NC_000016.9 | Chr16 | 20,509,542 | 20,538,939 |