nsv5393417
- 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:218
- Description:nsv4863518 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: 344 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 104 SVs from 23 studies. See in: genome view
Overlapping variant regions from other studies: 344 SVs from 43 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393417 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000021.9 | Chr21 | 46,183,608 | 46,183,825 |
| nsv5393417 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187626.1 | Chr21|NT_1 87626.1 | 44,978 | 45,195 |
| nsv5393417 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000021.8 | Chr21 | 47,603,522 | 47,603,739 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16869211 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16869211 | Remapped | Perfect | NT_187626.1:g.4497 8_45195del | GRCh38.p12 | Second Pass | NT_187626.1 | Chr21|NT_1 87626.1 | 44,978 | 45,195 |
| nssv16869211 | Remapped | Perfect | NC_000021.9:g.4618 3608_46183825del | GRCh38.p12 | First Pass | NC_000021.9 | Chr21 | 46,183,608 | 46,183,825 |
| nssv16869211 | Submitted genomic | NC_000021.8:g.4760 3522_47603739del | GRCh37 (hg19) | NC_000021.8 | Chr21 | 47,603,522 | 47,603,739 |
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) |
|---|---|---|---|
| nssv16869211 | 0.397 | 6678 | 16812 |