nsv5393850
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element deletion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,565
- Description:nsv4873206 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: 390 SVs from 65 studies. See in: genome view
Overlapping variant regions from other studies: 95 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 390 SVs from 65 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393850 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000022.11 | Chr22 | 23,853,754 | 23,856,318 |
| nsv5393850 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 90,116 | 92,680 |
| nsv5393850 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000022.10 | Chr22 | 24,195,941 | 24,198,505 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16884890 | sva deletion | Curated | Curated |
| nssv16885287 | sva deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16884890 | Remapped | Perfect | NT_187633.1:g.9011 6_92680del | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 90,116 | 92,680 |
| nssv16885287 | Remapped | Perfect | NT_187633.1:g.9011 6_92680del | GRCh38.p12 | Second Pass | NT_187633.1 | Chr22|NT_1 87633.1 | 90,116 | 92,680 |
| nssv16884890 | Remapped | Perfect | NC_000022.11:g.238 53754_23856318del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,853,754 | 23,856,318 |
| nssv16885287 | Remapped | Perfect | NC_000022.11:g.238 53754_23856318del | GRCh38.p12 | First Pass | NC_000022.11 | Chr22 | 23,853,754 | 23,856,318 |
| nssv16884890 | Submitted genomic | NC_000022.10:g.241 95941_24198505del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,195,941 | 24,198,505 | ||
| nssv16885287 | Submitted genomic | NC_000022.10:g.241 95941_24198505del | GRCh37 (hg19) | NC_000022.10 | Chr22 | 24,195,941 | 24,198,505 |
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) |
|---|---|---|---|
| nssv16884890 | 0.764 | 12865 | 16834 |
| nssv16885287 | 0.778 | 22744 | 29246 |