nsv5385196
- 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:310
- Description:nsv4900150 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: 109 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 109 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv5385196 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 57,218,723 | 57,219,032 |
| nsv5385196 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 57,252,635 | 57,252,944 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv16869366 | alu deletion | Curated | Curated |
| nssv16877613 | alu deletion | Curated | Curated |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16869366 | Remapped | Perfect | NC_000016.10:g.572 18723_57219032del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 57,218,723 | 57,219,032 |
| nssv16877613 | Remapped | Perfect | NC_000016.10:g.572 18723_57219032del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 57,218,723 | 57,219,032 |
| nssv16869366 | Submitted genomic | NC_000016.9:g.5725 2635_57252944del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 57,252,635 | 57,252,944 | ||
| nssv16877613 | Submitted genomic | NC_000016.9:g.5725 2635_57252944del | GRCh37 (hg19) | NC_000016.9 | Chr16 | 57,252,635 | 57,252,944 |
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) |
|---|---|---|---|
| nssv16869366 | 0.11 | 3222 | 29246 |
| nssv16877613 | 0.123 | 2074 | 16834 |