nsv4880230
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,243
- Publication(s):Abel et al. 2020
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: 411 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 60 SVs from 19 studies. See in: genome view
Overlapping variant regions from other studies: 411 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4880230 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 46,185,844 | 46,187,086 |
| nsv4880230 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187626.1 | Chr21|NT_1 87626.1 | 47,214 | 48,456 |
| nsv4880230 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 47,605,758 | 47,607,000 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16411745 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16411745 | Remapped | Perfect | NT_187626.1:g.4721 4_48456inv | GRCh38.p12 | Second Pass | NT_187626.1 | Chr21|NT_1 87626.1 | 47,214 | 48,456 |
| nssv16411745 | Remapped | Perfect | NC_000021.9:g.4618 5844_46187086inv | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 46,185,844 | 46,187,086 |
| nssv16411745 | Submitted genomic | NC_000021.8:g.4760 5758_47607000inv | GRCh37 (hg19) | NC_000021.8 | Chr21 | 47,605,758 | 47,607,000 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv16411745 | <0.001 | 7 | 16834 |