nsv5389958
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:copy number variation
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:451
- Description:nsv4979453 from Abel 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: 121 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 13 SVs from 9 studies. See in: genome view
Overlapping variant regions from other studies: 123 SVs from 39 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5389958 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000011.10 | Chr11 | 56,267,990 | 56,268,440 |
| nsv5389958 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 78,739 | 79,189 |
| nsv5389958 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 56,035,466 | 56,035,916 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16887869 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16887869 | Remapped | Perfect | NW_003871073.1:g.7 8739_79189del | GRCh38.p12 | Second Pass | NW_003871073.1 | Chr11|NW_0 03871073.1 | 78,739 | 79,189 |
| nssv16887869 | Remapped | Perfect | NC_000011.10:g.562 67990_56268440del | GRCh38.p12 | First Pass | NC_000011.10 | Chr11 | 56,267,990 | 56,268,440 |
| nssv16887869 | Submitted genomic | NC_000011.9:g.5603 5466_56035916del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 56,035,466 | 56,035,916 |
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) |
|---|---|---|---|
| nssv16887869 | 0.208 | 4988 | 23996 |