nsv5382057
- 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:255
- Description:nsv4777025 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: 400 SVs from 59 studies. See in: genome view
Overlapping variant regions from other studies: 29 SVs from 13 studies. See in: genome view
Overlapping variant regions from other studies: 388 SVs from 55 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5382057 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 90,295,169 | 90,295,423 |
| nsv5382057 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187524.1 | Chr2|NT_18 7524.1 | 107,100 | 107,354 |
| nsv5382057 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 90,478,614 | 90,478,868 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16873356 | deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16873356 | Remapped | Perfect | NT_187524.1:g.1071 00_107354del | GRCh38.p12 | Second Pass | NT_187524.1 | Chr2|NT_18 7524.1 | 107,100 | 107,354 |
| nssv16873356 | Remapped | Perfect | NC_000002.12:g.902 95169_90295423del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 90,295,169 | 90,295,423 |
| nssv16873356 | Submitted genomic | NC_000002.11:g.904 78614_90478868del | GRCh37 (hg19) | NC_000002.11 | Chr2 | 90,478,614 | 90,478,868 |
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) |
|---|---|---|---|
| nssv16873356 | 0.288 | 4848 | 16834 |