nsv6289776
- Organism: Homo sapiens
- Study:nstd214 (Naslavsky et al. 2022)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Publication(s):Naslavsky et al. 2022
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: 382 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 345 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 107 SVs from 14 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6289776 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000014.9 | Chr14 | 105,349,823 | 105,349,823 | ||
| nsv6289776 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | Second Pass | NC_000014.8 | Chr14 | 105,816,160 | 105,816,160 |
| nsv6289776 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 12,990 | 12,990 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv17926131 | insertion | Sequencing | Sequence alignment |
| nssv17927925 | insertion | Sequencing | Sequence alignment |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv17926131 | Submitted genomic | NC_000014.9:g.1053 49823_105349824ins 74 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 105,349,823 | 105,349,823 | ||
| nssv17927925 | Submitted genomic | NC_000014.9:g.1053 49823_105349824ins 75 | GRCh38 (hg38) | NC_000014.9 | Chr14 | 105,349,823 | 105,349,823 | ||
| nssv17926131 | Remapped | Perfect | NW_004166863.1:g.1 2990_12991ins74 | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 12,990 | 12,990 |
| nssv17927925 | Remapped | Perfect | NW_004166863.1:g.1 2990_12991ins75 | GRCh37.p13 | First Pass | NW_004166863.1 | Chr14|NW_0 04166863.1 | 12,990 | 12,990 |
| nssv17926131 | Remapped | Perfect | NC_000014.8:g.1058 16160_105816161ins 74 | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 105,816,160 | 105,816,160 |
| nssv17927925 | Remapped | Perfect | NC_000014.8:g.1058 16160_105816161ins 75 | GRCh37.p13 | Second Pass | NC_000014.8 | Chr14 | 105,816,160 | 105,816,160 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv17926131 | <0.001 | 1 | 2260 |
| nssv17927925 | <0.001 | 1 | 2260 |