nsv4768904
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:insertion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1
- Description:nsv4685292 from Lee et. al 2020. For a full list of variants now included in nstd186, refer to the mapping file provided here.
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: 175 SVs from 21 studies. See in: genome view
Overlapping variant regions from other studies: 6 SVs from 5 studies. See in: genome view
Overlapping variant regions from other studies: 175 SVs from 21 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768904 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 129,745,799 | 129,745,799 |
| nsv4768904 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_019805494.1 | Chr8|NW_01 9805494.1 | 21,092 | 21,092 |
| nsv4768904 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 130,758,045 | 130,758,045 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16252554 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16252554 | Remapped | Perfect | NW_019805494.1:g.2 1092_21093ins? | GRCh38.p12 | Second Pass | NW_019805494.1 | Chr8|NW_01 9805494.1 | 21,092 | 21,092 |
| nssv16252554 | Remapped | Perfect | NC_000008.11:g.129 745799_129745800in s? | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 129,745,799 | 129,745,799 |
| nssv16252554 | Submitted genomic | NC_000008.10:g.130 758045_130758046in s? | GRCh37 (hg19) | NC_000008.10 | Chr8 | 130,758,045 | 130,758,045 |
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) |
|---|---|---|---|
| nssv16252554 | 0.068 | 259 | 3818 |