nsv7144627
- Organism: Homo sapiens
- Study:nstd232 (Keane et al. 2023)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
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: 198 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 199 SVs from 29 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7144627 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 42,778,563 | 42,778,563 |
| nsv7144627 | Submitted genomic | GRCh37.p13 | Primary Assembly | NC_000021.8 | Chr21 | 44,198,673 | 44,198,673 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18840601 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18840601 | Remapped | Perfect | NC_000021.9:g.4277 8563_42778564insCC CCCGCCCGGCCAGCCGCC CCGTCTGGGAGGGAGGTG GGGGGGTCAGC | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 42,778,563 | 42,778,563 |
| nssv18840601 | Submitted genomic | NC_000021.8:g.4419 8673_44198674insCC CCCGCCCGGCCAGCCGCC CCGTCTGGGAGGGAGGTG GGGGGGTCAGC | GRCh37.p13 | NC_000021.8 | Chr21 | 44,198,673 | 44,198,673 |
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) |
|---|---|---|---|
| nssv18840601 | 0.5 | 1 | 2 |