nsv5382761
- Organism: Homo sapiens
- Study:nstd186 (NCBI Curated Common Structural Variants)
- Variant Type:mobile element deletion
- Method Type:Curated
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:336
- Description:nsv4786147 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: 312 SVs from 56 studies. See in: genome view
Overlapping variant regions from other studies: 53 SVs from 30 studies. See in: genome view
Overlapping variant regions from other studies: 71 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 196 SVs from 37 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5382761 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 363,502 | 363,837 |
| nsv5382761 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 38,801 | 39,136 |
| nsv5382761 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 336,901 | 337,225 |
| nsv5382761 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 213,293 | 213,628 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16883689 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16883689 | Remapped | Perfect | NT_187662.1:g.3880 1_39136del | GRCh38.p12 | Second Pass | NT_187662.1 | Chr17|NT_1 87662.1 | 38,801 | 39,136 |
| nssv16883689 | Remapped | Good | NW_003315952.3:g.3 36901_337225del | GRCh38.p12 | Second Pass | NW_003315952.3 | Chr17|NW_0 03315952.3 | 336,901 | 337,225 |
| nssv16883689 | Remapped | Perfect | NC_000017.11:g.363 502_363837del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 363,502 | 363,837 |
| nssv16883689 | Submitted genomic | NC_000017.10:g.213 293_213628del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 213,293 | 213,628 |
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) |
|---|---|---|---|
| nssv16883689 | 0.355 | 5974 | 16834 |