nsv5393470
- 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:483
- Description:nsv5039085 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: 140 SVs from 47 studies. See in: genome view
Overlapping variant regions from other studies: 140 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393470 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000010.11 | Chr10 | 6,055,423 | 6,055,905 |
| nsv5393470 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000010.10 | Chr10 | 6,097,386 | 6,097,868 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16876080 | sva deletion | Curated | Curated |
| nssv16885034 | sva deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16876080 | Remapped | Perfect | NC_000010.11:g.605 5423_6055905del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 6,055,423 | 6,055,905 |
| nssv16885034 | Remapped | Perfect | NC_000010.11:g.605 5423_6055905del | GRCh38.p12 | First Pass | NC_000010.11 | Chr10 | 6,055,423 | 6,055,905 |
| nssv16876080 | Submitted genomic | NC_000010.10:g.609 7386_6097868del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 6,097,386 | 6,097,868 | ||
| nssv16885034 | Submitted genomic | NC_000010.10:g.609 7386_6097868del | GRCh37 (hg19) | NC_000010.10 | Chr10 | 6,097,386 | 6,097,868 |
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) |
|---|---|---|---|
| nssv16876080 | 0.839 | 24536 | 29246 |
| nssv16885034 | 0.819 | 13791 | 16834 |