nsv5383536
- 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:314
- Description:nsv4893270 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: 281 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 103 SVs from 24 studies. See in: genome view
Overlapping variant regions from other studies: 281 SVs from 38 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5383536 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 10,358,567 | 10,358,880 |
| nsv5383536 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 2,988,204 | 2,988,491 |
| nsv5383536 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000008.10 | Chr8 | 10,216,077 | 10,216,390 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16873336 | alu deletion | Curated | Curated |
| nssv16881422 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16873336 | Remapped | Pass | NW_018654717.1:g.2 988204_2988491del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 2,988,204 | 2,988,491 |
| nssv16881422 | Remapped | Pass | NW_018654717.1:g.2 988204_2988491del | GRCh38.p12 | Second Pass | NW_018654717.1 | Chr8|NW_01 8654717.1 | 2,988,204 | 2,988,491 |
| nssv16873336 | Remapped | Perfect | NC_000008.11:g.103 58567_10358880del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 10,358,567 | 10,358,880 |
| nssv16881422 | Remapped | Perfect | NC_000008.11:g.103 58567_10358880del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 10,358,567 | 10,358,880 |
| nssv16873336 | Submitted genomic | NC_000008.10:g.102 16077_10216390del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 10,216,077 | 10,216,390 | ||
| nssv16881422 | Submitted genomic | NC_000008.10:g.102 16077_10216390del | GRCh37 (hg19) | NC_000008.10 | Chr8 | 10,216,077 | 10,216,390 |
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) |
|---|---|---|---|
| nssv16873336 | 0.016 | 269 | 16834 |
| nssv16881422 | 0.015 | 432 | 29246 |