nsv5393702
- 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:6,248
- Description:nsv5038197 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: 173 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 173 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393702 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 166,988,451 | 166,994,698 |
| nsv5393702 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 167,844,961 | 167,851,208 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16884358 | line1 deletion | Curated | Curated |
| nssv16886320 | line1 deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16884358 | Remapped | Perfect | NC_000002.12:g.166 988451_166994698de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,988,451 | 166,994,698 |
| nssv16886320 | Remapped | Perfect | NC_000002.12:g.166 988451_166994698de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 166,988,451 | 166,994,698 |
| nssv16884358 | Submitted genomic | NC_000002.11:g.167 844961_167851208de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,844,961 | 167,851,208 | ||
| nssv16886320 | Submitted genomic | NC_000002.11:g.167 844961_167851208de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 167,844,961 | 167,851,208 |
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) |
|---|---|---|---|
| nssv16884358 | 0.062 | 1813 | 29246 |
| nssv16886320 | 0.073 | 1235 | 16834 |