nsv5393657
- 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:1,679
- Description:nsv4871494 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: 574 SVs from 25 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 79 SVs from 10 studies. See in: genome view
Overlapping variant regions from other studies: 575 SVs from 25 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5393657 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 364,692 | 366,370 |
| nsv5393657 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_2 | Second Pass | NT_187667.1 | ChrX|NT_18 7667.1 | 37,185 | 38,863 |
| nsv5393657 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187634.1 | ChrX|NT_18 7634.1 | 48,045 | 49,723 |
| nsv5393657 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 325,427 | 327,105 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16869338 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16869338 | Remapped | Perfect | NT_187667.1:g.3718 5_38863del | GRCh38.p12 | Second Pass | NT_187667.1 | ChrX|NT_18 7667.1 | 37,185 | 38,863 |
| nssv16869338 | Remapped | Perfect | NT_187634.1:g.4804 5_49723del | GRCh38.p12 | Second Pass | NT_187634.1 | ChrX|NT_18 7634.1 | 48,045 | 49,723 |
| nssv16869338 | Remapped | Perfect | NC_000023.11:g.364 692_366370del | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 364,692 | 366,370 |
| nssv16869338 | Submitted genomic | NC_000023.10:g.325 427_327105del | GRCh37 (hg19) | NC_000023.10 | ChrX | 325,427 | 327,105 |
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) |
|---|---|---|---|
| nssv16869338 | 0.104 | 1742 | 16826 |