nsv5393597
- 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:2,783
- Description:nsv5032769 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: 220 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 220 SVs from 50 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393597 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 201,281,935 | 201,284,717 |
| nsv5393597 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 202,146,658 | 202,149,440 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16874536 | sva deletion | Curated | Curated |
| nssv16881999 | sva deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16874536 | Remapped | Perfect | NC_000002.12:g.201 281935_201284717de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,281,935 | 201,284,717 |
| nssv16881999 | Remapped | Perfect | NC_000002.12:g.201 281935_201284717de l | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 201,281,935 | 201,284,717 |
| nssv16874536 | Submitted genomic | NC_000002.11:g.202 146658_202149440de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 202,146,658 | 202,149,440 | ||
| nssv16881999 | Submitted genomic | NC_000002.11:g.202 146658_202149440de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 202,146,658 | 202,149,440 |
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) |
|---|---|---|---|
| nssv16874536 | 0.508 | 14867 | 29246 |
| nssv16881999 | 0.485 | 8165 | 16834 |