nsv5386520
- 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:219
- Description:nsv4821101 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: 291 SVs from 48 studies. See in: genome view
Overlapping variant regions from other studies: 117 SVs from 32 studies. See in: genome view
Overlapping variant regions from other studies: 291 SVs from 48 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5386520 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 11,637,484 | 11,637,702 |
| nsv5386520 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,710,345 | 1,710,550 |
| nsv5386520 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 11,494,993 | 11,495,211 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16884619 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16884619 | Remapped | Pass | NW_018654717.1:g.1 710345_1710550del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 1,710,345 | 1,710,550 |
| nssv16884619 | Remapped | Perfect | NC_000008.11:g.116 37484_11637702del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 11,637,484 | 11,637,702 |
| nssv16884619 | Submitted genomic | NC_000008.10:g.114 94993_11495211del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 11,494,993 | 11,495,211 |
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) |
|---|---|---|---|
| nssv16884619 | 0.351 | 5914 | 16832 |