nsv5393645
- 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:2,736
- Description:nsv4883985 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: 112 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 112 SVs from 47 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393645 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000012.12 | Chr12 | 95,839,814 | 95,842,549 |
| nsv5393645 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000012.11 | Chr12 | 96,233,592 | 96,236,327 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16873636 | sva deletion | Curated | Curated |
| nssv16875971 | sva deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16873636 | Remapped | Perfect | NC_000012.12:g.958 39814_95842549del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 95,839,814 | 95,842,549 |
| nssv16875971 | Remapped | Perfect | NC_000012.12:g.958 39814_95842549del | GRCh38.p12 | First Pass | NC_000012.12 | Chr12 | 95,839,814 | 95,842,549 |
| nssv16873636 | Submitted genomic | NC_000012.11:g.962 33592_96236327del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 96,233,592 | 96,236,327 | ||
| nssv16875971 | Submitted genomic | NC_000012.11:g.962 33592_96236327del | GRCh37 (hg19) | NC_000012.11 | Chr12 | 96,233,592 | 96,236,327 |
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) |
|---|---|---|---|
| nssv16873636 | 0.868 | 25396 | 29246 |
| nssv16875971 | 0.901 | 15160 | 16834 |