nsv4768901
- 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:nsv4684700 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: 127 SVs from 26 studies. See in: genome view
Overlapping variant regions from other studies: 8 SVs from 8 studies. See in: genome view
Overlapping variant regions from other studies: 127 SVs from 26 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4768901 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 41,382,201 | 41,382,201 |
| nsv4768901 | Remapped | Perfect | GRCh38.p12 | PATCHES | Second Pass | NW_009646194.1 | Chr1|NW_00 9646194.1 | 131,897 | 131,897 |
| nsv4768901 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 41,847,873 | 41,847,873 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16252575 | insertion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16252575 | Remapped | Perfect | NW_009646194.1:g.1 31897_131898ins? | GRCh38.p12 | Second Pass | NW_009646194.1 | Chr1|NW_00 9646194.1 | 131,897 | 131,897 |
| nssv16252575 | Remapped | Perfect | NC_000001.11:g.413 82201_41382202ins? | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 41,382,201 | 41,382,201 |
| nssv16252575 | Submitted genomic | NC_000001.10:g.418 47873_41847874ins? | GRCh37 (hg19) | NC_000001.10 | Chr1 | 41,847,873 | 41,847,873 |
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) |
|---|---|---|---|
| nssv16252575 | 0.237 | 869 | 3660 |