nsv5391879
- 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:794
- Description:nsv4864407 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: 311 SVs from 55 studies. See in: genome view
Overlapping variant regions from other studies: 64 SVs from 27 studies. See in: genome view
Overlapping variant regions from other studies: 181 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5391879 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 235,085 | 235,878 |
| nsv5391879 | Remapped | Pass | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 186,208 | 186,738 |
| nsv5391879 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 84,876 | 85,669 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16875026 | duplication | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16875026 | Remapped | Pass | NW_003315952.3:g.1 86208_186738dup | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 186,208 | 186,738 |
| nssv16875026 | Remapped | Perfect | NC_000017.11:g.235 085_235878dup | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 235,085 | 235,878 |
| nssv16875026 | Submitted genomic | NC_000017.10:g.848 76_85669dup | GRCh37 (hg19) | NC_000017.10 | Chr17 | 84,876 | 85,669 |
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) |
|---|---|---|---|
| nssv16875026 | 0.357 | 6016 | 16834 |